ALPA-1-ANTITRYPSIN DEFICIENCY:Alpha-1-antitrypson is an enzyme produced by the liver and released into the blood stream. Its primary function is to protect the lungs from another enzyme called neutrophil elastase. Neutrophil elastase is produced by white blood cells in response to infections or irritants to digest damaged tissue in the lungs. A chromosomal abnormality prevents the alpha-1-antitrypsin from being released from the liver into the blood stream. The accumulation of alpha-1 antitrypsin in the liver can cause liver damage leading to the need for a liver transplant. Damage to the lungs can lead to emphysema.
AMBLYOPIA, CHRONIC LUNG DISEASE, LIVER DISEASE, SHORT GUT SYNDROME: Many of these are complications of a premature birth. Prematurity is defined as a birth that happens before the 37th week of gestation. Prematurity puts infants at risk for visual problems. Amblyopia is also “lazy eye”. This is what happens when the brain cuts off vision in one eye because there is some reason that the vision is obstructed to that eye. This is treated by wearing glasses or patching and forcing the lazy eye to get stronger. If not treated properly the visual loss can become permanent. Premature infants can have livers that do not function properly causing jaundice. Short bowel syndrome is a malabsorption disorder usually caused by surgical removal of part of the intestine because of infection or other intestinal structural abnormalities. Premature babies are born with immature lungs. They often require long periods of time on ventilators which causes long term damage to the lungs and chronic lung disease.
AMNIOTIC BAND SYNDROME: Amniotic Band Syndrome can occur for one of two reasons. There can a separation of the inner layers of the amniotic sac which is the a thin membrane that completely surrounds a fetus during development. Some of these strands of tissue can wrap around different parts of the developing fetus, disrupting normal development. A second theory involves impaired blood flow to specific parts of the developing fetus causing abnormal development. Depending on which part of the developing fetus is affected, there are 3 major patterns of abnormalities noted. The first pattern often seen has deformities of the upper or lower extremities including fingers or toes. Other children may have a complex set of abnormalities that include the abdominal wall, the limbs and other abnormalities. The third pattern includes craniofacial abnormalities including cleft lip and palate, small underdeveloped eyes and malformations that affect the size and shape of the skull. Treatment is supportive depending on the area affected.
ANAPLASTIC ASTROCYTOMA: Anaplastic Astrocytoma is a type of brain tumor sometimes referred to as a glioma because it originates from the glial (supportive) tissue of the brain. An anaplastic astrocytoma is an aggressive form of this tumor that grows quickly and spreads through out the brain. It requires intensive treatment as soon as possible usually with surgery and radiation. Prognosis and survival rate depend on the type of tumor, its location in the brain and whether it is localized or if it has already spread at the time of diagnosis
APERT SYNDROME: Apert Syndrome is a congenital genetic disorder characterized by malformations of the skull, face, and hands. The bones in the face and skull fuse too early. This disrupts the normal growth patterns, causing these children to have high, prominent foreheads, flat or concave facies and broadly spaced eyes. There may be webbing of the fingers. The child may or may not have cognitive deficiencies. Treatment of Apert Syndrome focuses on surgical correction of the skull, facial and hand deformities.
ARTHROGRYPOSIS MULTIPLEX CONGENTIA (AMC): Name given to a group of disorders characterized by multiple joint contractures present at birth. Arthrogryposis is caused decreased fetal movement in utero. If the fetus does not move its joints, extra connective tissue forms around the joints and fixes them in place. This is a non-progressive disease but there is no cure. Vigorous physical therapy to stretch the joints and strengthen weak muscles as well as orthopedic intervention are the mainstays of treatment for this disease.
AUTISM: Autism is a highly variable neurodevelopmental disorder that usually appears in the first 3 years of life. It is characterized by impaired development of social and communication skills. The exact cause is unknown but at the present time is felt to multifactorial.
AUTOIMMUNE HEPATITIS: Autoimmune hepatitis is a condition in which a person’s own immune system attacks the liver and eventually causes cirrhosis (a disease of the liver caused by liver cells that do not work properly), and eventually liver failure. What triggers the immune system to attack the liver this way is not known. Medications may help to slow down an overactive immune system and prevent further damage to the liver. People who progress to end stage liver disease (liver failure) may need a liver transplant.
BILATERAL CONGENITAL LONGITUDINAL TIBIA DEFICIENCY AND ABOVE THE KNEE AMPUTATIONS: The lower leg is composed of two bones, the larger one is the tibia and the smaller one is the fibula. Congenital deficiency of the tibia is quite rare affecting only 1 in every million live births in the US. It can affect one or both legs. Depending on the type of deformity, the tibia can be completely absent or only partially affected. These children can have associated congenital abnormalities including hand malformations, heart disease, and learning disabilities. Treatment is usually surgical and depends on how much of the tibia is present or absent. In the most severe cases, the deformed lower extremities are amputated and the child is fitted with prosthesis to allow for normal activity.
BILIARY ATRESIA: The liver has a network of ducts that drain bile from the liver
to the small intestine where it aids in digestion. Biliary Atresia is the closure or disappearance of these ducts. Biliary Atresia is a progressive disease that starts soon after
birth. Bile is trapped inside the liver and can cause liver damage or even cirrhosis.
Some children with Biliary Atresia require a liver transplant.
BEAL’S SYNDROME: (Congenital contractural arachnodactyly) is a rare genetic connective tissue disorder characterized by tall thin stature with permanently contracted joints of the fingers, elbows,knees and hips. These children also have abnormally shaped ears that give them a “crumpled” appearance. Their fingers and toes are long and slender and they can have scoliosis ( severe curvature of the back either side to side or front to back ). There can also be facial abnormalities, heart problems or eye problems including near-sightedness. This disorder is related to but distinctly different from Marfan’s Syndrome. There is no cure, the treatment is symptomatic including physical therapy as well a surgical intervention. These children have normal life spans and intelligence.
BRAIN ANEURYSM: A brain aneurysm is a bulging, weak area in the wall of an artery that supplies blood to the brain. These can be treated with surgery to prevent rupture and bleeding into the brain.
BRAIN INJURY AFTER BACTERIAL MENINGITIS: Baceterial meningitis is infection of the membranes that cover the brain and the fluid that surrounds the brain. The bacteria that are responsible for the infection also release toxins that cause damage to the blood vessels around the brain and cause the brain to swell. As the body tries to fight off the infection, the white blood cells release powerful enzymes that help kill the bacteria. The brain damage in bacterial meningitis is caused directly by the bacteria itself through toxins that cause brain swelling and damge. Brain damage can also occur because the enzymes released by the white blood cell can damage healthy brain tissue as it kills the bacteria.
BRAINSTEM GLIOMA: Brain Stem Gliomas are tumors that arise from glial cells in the brain stem. The brain stem is the lower part of the brain that connects the brain to the spinal cord. The nerves that control eye movement, facial movement and swallowing originate in the brain stem. Presenting symptoms of these tumors include abnormal eye positioning, one-sided facial paralysis, swallowing difficulties double vision and decrease in coordination. Brain tumors are the 3rd most common type of childhood cancer and they usually present between 5 and 10 years of age. Because of the location of the tumor, surgical excision is almost always impossible. Treatment consists primarily of radiation and sometimes chemotherapy.
BRAIN STEM TUMOR: A brain stem tumor is a tumor that sits in the part of the brain that connects to the spinal cord.
Cardiomyopathy and Heart transplant/Anoxic brain injury: Cardiomyopathy is a disease that weakens and enlarges the heart muscle. This makes it harder for the heart to pump blood and deliver oxygen to the rest of the body. Cardiomyopathy can be caused by many different things including viral infections of the heart muscle itself. In cases where the damage to the heart muscle is severely affected a heart transplant may be necessary. Anoxic brain injuries are caused by a lack of oxygen to the brain. When oxygen levels to the brain are significantly low for 4 minutes or longer, brain cells begin to die. After 5 minutes without oxygen, permanent brain damage occurs. An anoxic brain injury can cause cognitive problems and disabilities or it can be life-threatening.
CEREBRAL PALSY: An umbrella term that refers to a group of non-progressive abnormalities in areas of the brain that cause physical disabilities chiefly in the area of body movement. Most children are born with cerebral palsy but it may not become physically apparent until months or years later. Most of these abnormalities occur before the infant is even born. Low oxygen levels at birth account for only a small percentage of all cases. Other causes are thought to include intrauterine infections, low oxygen levels or infections after birth and physical trauma to the brain within the first couple of years of life. Sometimes a cause is never found.
CEREBRAL PALSY (Spastic): An umbrella term that refers to a group of non-progressive abnormalities in areas of the brain that cause physical disabilities chiefly in the area of body movement. Most children are born with cerebral palsy but it may not become physically apparent until months or years later. Most of these abnormalities occur before the infant is even born. Low oxygen levels at birth account for only a small percentage of all cases. Other causes are thought to include intrauterine infections, low oxygen levels or infections after birth and physical trauma to the brain within the first couple of years of life. Sometimes a cause is never found. Spastic cerebral palsy is the most common form of this disorder affecting 70-80% of all patients with cerebral palsy. Spastic refers to the increased tone, or tension, in a muscle. Normal muscles work in pairs. When one group contracts the other group relaxes, allowing free movement in the desired direction . With spastic cerebral palsy, all of the muscles contract together not allowing coordinated movement.
CLEAR CELL SARCOMA OF THE KIDNEY: Clear cell sarcoma of the kidney is a rare form of kidney cancer with approximately only 20 new cases being diagnosed each year in the US. in children it is usually diagnosed between 3 to 5 years of age. It comprises only 4% of all primary childhood kidney tumors. It is a very aggressive tumor and will often metastasize to bones. Treatment includes surgical removal of the effected kidney as well as chemotherapy. This tumor will sometimes relapse years after the original diagnosis.
CLEFT LIP AND PALATE: Cleft lip and palate are congenital deformities caused by abnormal facial development during gestation. A cleft is a fissure or opening caused by the non-fusion of the body’s natural structures, in this case the lip and the oral palate. About 1 in 700 children born have a cleft lip or palate or both. The cleft can be unilateral or bilateral and is treated with surgery soon after birth or in early childhood.
CONGENITAL INFANTILE FIBROSARCOMA OF THE HEART: Congenital or infantile fibrosarcoma (CIFS) is a rare soft-tissue tumor that represents less than 1% of all childhood cancers. It accounts for approximately 5-10% of all sarcomas in children younger than 1 year old. CIFS usually occurs in the distal arms and legs, but there are unusual presentations such as tumors that occur in the lungs and HEART. Surgery with is the mainstay of treatment. Sometimes chemotherapy is used to shrink the tumor prior to surgery. Metastases are rare, but local recurrence is common. The prognosis is good with overall survival as high as 90%.
CRANIOPHARYNGIOMA: is a brain tumor that is seen predominantly in children 5-10 years of age. Even though these tumors are benign their size and the fact that they compress surrounding neural structures cause multiple health problems for these children. Many of these children have headaches, loss of vision, and multiple endocrine problems including growth hormone deficiency, hypothyroidism, and diabetes insipidus. The tumor can also prevent drainage of fluid from the brain and lead to increased pressure in the brain, headaches, vomiting and seizures. Treatment is usually surgical followed by radiation therapy.
CRI DU CHAT: Cri du Chat is a genetic disorder caused by deletion of part of
the #5 chromosome. It affects 1 in every 25-50,000 children. These children
have a characteristic weak, monotone cry that sounds like the cry of a cat. They
have varying degrees of mental retardation, high palates, round faces, small heads
and chins and wide spaced eyes. They tend to have developmental motor delays and
are often sensitive to touch on their hands, feet, heads and faces. They have speech
and language delays with better receptive than expressive abilities, meaning they
understand what you say, better than they express what they are thinking or feeling.
CYSTIC FIBROSIS: Cystic fibrosis is one of the most common, inherited chronic lung diseases in children and young adults. CF is caused by a defective gene which causes the body to produce thick, sticky mucous that builds up in the lungs and pancreas. The buildup of mucous in the lungs leads to life-threatening lung infections and frequent sinus infections. The pancreas produces enzymes that help break down and absorb foods. Build up of mucous in the pancreas can lead to serious digestion problems and delayed growth in affected children. Children with CF have to take frequent breathing treatments and antibiotics to prevent the lung infections as well as enzymes and vitamins to aid in digestion and growth.
CYSTIC FIBROSIS & DIABETES: Cystic fibrosis is one of the most common, inherited chronic lung diseases in children and young adults. CF is caused by a defective gene which causes the body to produce thick, sticky mucous that builds up in the lungs and pancreas. The buildup of mucous in the lungs leads to life-threatening lung infections and frequent sinus infections. The pancreas produces enzymes that help break down and absorb foods. Build up of mucous in the pancreas can lead to serious digestion problems and delayed growth in affected children. Cystic Fibrosis associated diabetes is often caused by scarring of the pancreas. The scarring prevents insulin from getting into the blood stream causing diabetes. There is no cure for Cystic Fibrosis. Children with CF have to take frequent breathing treatments and antibiotics to prevent the lung infections as well as enzymes and vitamins to aid in digestion and growth. The diabetes requires daily injections of insulin.
CYSTIC HYGROMA: A cystic hygroma is a congenital malformation that can arise from the lymphatic system. They can occur anywhere in the body but most commonly occur in the neck. Cystic hygromas are large fluid filled cysts that are benign (not cancerous) but can be very disfiguring. They can cause obstruction of the airway requiring placement of a tracheostmy. The mainstay of treatment is surgical removal. When this is not possible, other treatment options include chemotherapy, radiation or medications injected directly into the tumor to prevent further growth.
DANDY-WALKER SYNDROME: Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fourth ventricle (the fluid filled spaces around it). Symptoms often present in early infancy and include slow motor development, including delays in crawling and walking as well as progressive head enlargement. Other symptoms include jerky eye movements, seizures, and poor coordination. While rare, hearing and vision problems can be seen. Physical and occupational therapies are used to treat the associated conditions.
DIAMOND-BLACKFAN ANEMIA: Bones have hollow centers that are filled with a soft, fatty substance called bone marrow. The major function of bone marrow is to produse new blood cells. In Diamond-Blackfan Anemia the bone marrow malfunctions and does not produce enough red blood cells causing anemia. Red blood cells are the part of the blood that carries oxygen to the body’s tissues. Symptoms of this disease include weakness, fatigue and paleness. There can also be associated physical abnormalities including cataracts, kidney and heart defects, cleft palates, facial abnormalities and hand malformations. DFA patients have an increased risk of developing leukemia and OSTEOSARCOMA.
DIFFUSE INTRINSIC PONTINE GLIOMA: Diffuse intrinsic pontine gliomas are highly aggressive, cancerous brain tumors found in the brainstem. The brainstem controls many of the body’s most vital functions such as breathing, blood pressure, and heart rate. Diffuse intrinsic pontine gliomas account for 10 percent of all childhood central nervous system tumors. Approximately 300 children in the US, usually between 5 and 9 years of age, are diagnosed with DIPG each year. While these tumors cannot be completely surgically removed, they are treated with radiation and sometimes chemotherapy.
DiGEORGE SYDROME: is a genetic disorder caused by a defect in chromosome 22, and results in the poor development of several body systems. Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity. This variation depends on what body systems are affected and how severe the defects are. Medical problems commonly associated with DiGeorge syndrome include heart defects and poor immune system function causing frequent infections. Complications related to low levels of calcium in the blood cause twitching around the mouth, spasms of the throat, hands, and arms. These children may have speech delays, learning difficulties and
DISSEMINATED JUVENILE PILOCYTIC ASTROCYTOMA: Juevenille Pylocytic Astrocytomas are the most common benign brain tumors found in children. This tumor is slow growing, so spread to other parts of the body is unusual but can happen. Disseminated means that in this case, the tumor has spread to other parts of the spinal column. Symptoms of a JPA will vary depending upon the size and location of the tumor. The most common symptoms include headaches, nausea, and vomiting which is a result of the increased pressure in the skull due to the size of the tumor. If the tumor is located in the cerebellum it can cause weakness, clumsiness or difficulty walking. If it located along the optic nerve there can be loss of vision or protrusion of the eyes. These children can also suffer from seizures, memory loss or impairment of their ability to speak. Because of the benign nature of this tumor, these children are sometimes just observed and followed closely with MRIs. In some cases, surgery or radiation therapy or surgery is necessary..
DOWN SYNDROME & HYPOTHYROIDISM: Down Syndrome is a genetic disorder first described by Dr. Down in 1887. The genetic cause was not discovered until 1959. DS is a genetic disorder caused by an extra copy of the #21 chromosome at birth and is the most common single cause of birth defects in humans. These children have a characteristic face, upward slanting eyes and single palmar creases. There is also delayed mental and social development. There can be many associated heath problems including hypothyroidism (an underactive thyroid), heart defects, hypotonia and eye problems. While some of these children require a lot of medical attention over their life times, others will live very active, healthy lives.
DUBOWITZ SYNDROME: Dubowitz Syndrome is a rare genetic disorder first described by Dr. Dubowitz in 1956. There are only 142 cases reported worldwide. It is characterized by growth retardation before and after birth, they have been found to be growth hormone deficient. These children have microcephaly (small heads), small stature and a characteristic facial appearance. While this disorder has a variable presentation, about 50% of these children will have eczema and some will have mental retardation. The exact genetic abnormality is not known. Treatment is based on the child’s specific signs and symptoms and includes speech and language therapy, occupational and physical therapy.
DUCHENNE MUSCULAR DYSTROPHY: The best-known form of muscular dystrophy, caused by a gene mutation on the X chromosome that prevents the production of dystrophin, a protein required for muscles to remain strong and healthy. DMD affects boys and, very rarely, girls. Symptoms of DMD typically appear between the ages of two and six. There is weakness in the pelvis and upper limbs, resulting in clumsiness, frequent falling, an unusual gait that may lead the physician to test for this genetic disorder. Mild mental retardation is common. As DMD progresses, a wheelchair may be needed. Most patients with DMD die in their early twenties because of muscle-based breathing and heart problems. There is no cure for DMD.
EARLY MORBID OBESITY with JC SYNDROME, MOMO SYNDROME: Early morbid obesity is characterized by onset of obesity prior to 10 years of age and a Body Mass Index greater than 4 standard deviations above what is expected for that child’s size and age. There are certainly genetic causes of early morbid obesity as well as lifestyle causes. JC Syndrome refers to Joel Corbin, the first child in which the genetic abnormality that causes obesity was identified. MOMO Syndrome is very rare, with only 6 cases having been diagnosed world-wide. MOMO is an acronym for Macrosomia (large birth weight), Obesity, Macrocephaly (large head), and Occular(eye)abnormalities. MOMO Syndrome was first described by a Brazilian professor in 1993. The MOMO acronym was an intended pun referring to the traditional tall and obese King of Carnivals, Momous.
EHLERS DANLOS SYNDROME: The Ehlers-Danlos syndromes are a group of connective tissue disorders that are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. The joint hypermobility can lead to early arthritis. The hypermobile, fragile skin can tear or bruise easily. Wounds heal poorly and can lead to severe scarring. While there is no cure for the Ehlers-Danlos syndromes, there is treatment for symptoms, and there are preventative measures that are helpful for most.
ENCEPHELOPATHY: Static encephalopathy is defined as permanent or unchanging brain damage. The effects on development depend on the part of the brain involved and the severity of the damage. Static encephalopathy can be caused by many things including severe head injury, bleeding in the brain, meningitis or lack of oxygen to the brain. Symptoms can range from mild to severe and permanent implies that there is no cure.
EONSINOPHILIC ESOPHAGITIS: Eosinophilic Esophagitis is a rare disorder characterized by inflammation of the esophagus, stomach or intestine. Symptoms include nausea, vomiting, weight loss or difficulty swallowing. When a person has an allergic reaction, the body produces a specific cell in response to the allergy called eosinophils. In Eosinophilic Esophagitis, the tissue of the esophagus becomes infiltrated with eosinophils causing it to become inflamed, painful and loose its elasticity making it difficult to swallow. The cause is unclear but some studies have shown an association between food allergies and Eosinophilic Esophagitis. Therefore the first line of treatment is eliminating any foods from the diet that the child may be allergic to.
EPIDERMOLYSIS BULLOSA: Epidermolysis is a group of skin disorders whose hallmark is blistering in response to minor injury, heat or friction from rubbing or friction. ED affects about 12,500 people in the US alone. It is most often diagnosed at or soon after birth and the symptoms can range from mild to severe depending on which form is diagnosed. There is no cure for this disease and treatment is based on the severity, but is usually aimed at preventing pain, infection or other complications.
EWING’S SARCOMA: Ewing’s Sarcoma is named after Dr. Ewing who was the
first MD to describe a bone tumor that, unlike other types of bone tumors such as osteosarcoma, was very responsive to radiation therapy. Ewing’s Sarcoma usually occurs during puberty, between the ages of 10-20 years, when the bones are growing rapidly. The tumors usually occur in the long bones of the arms, legs, pelvis and chest. The can occasionally present with bone pain or more commonly by pathological fractures, meaning the
fracture of the arm or leg through the tumor site. These tumors are treated with
a combination of chemotherapy, surgery and radiation.
GERM CELL BRAIN TUMOR: Germ cells are the embryonic cells that will eventually develop into the reproductive system of both males and females. During development, these cells can fail to migrate and instead become “trapped” in the brain. These cells, in rare cases, become malignant brain tumors. Germ cell brain tumors account for only 4% of all pediatric brain tumors and usually occur in children between 10 and 20 years of age. Treatment includes surgery, radiation and chemotherapy. The type of treatment selected depends on the location of the tumor in the brain. Survival rate is close to 90% after 5 years.
GOLDENHAR SYNDROME: Goldenhar Syndrome is a congenital birth defect that involves incomplete development of usually only one side of the face. These deformities may include a deformed or absent ear, missing eye or malformations of the jaw, lip, nose and soft palate. The cause of Goldenhar Syndrome is unknown, treatment is surgical. Occasionally there may involvement of internal organs such as the kidneys, heart and lungs.
HEMOPHILIA (SEVERE): Hemophilia is a group of genetic disorders that impairs the body’s ability to clot blood and control bleeding. The child with hemophilia has a deficiency of a substance required for the blood to clot. When a blood vessel is injured, the body is not able to form a clot to help control bleeding and the child with hemophilia will bleed much longer than a person without the disease. When the bleeding occurs in a joint or in the brain, it can be permanently debilitating or even fatal. Hemophilia A is the most common form of this disorder and is present in about 1 in 5-10 thousand male births. Different mutations of the hemophilia gene dictates the level of active clotting factor a child has. Individuals with less than 1% active factor are severe. There is no cure for hemophilia but it can be controlled with infusions of the deficient clotting factor.
HEPATOBLASTOMA: Hepatoblastoma is a very rare malignant liver tumor usually diagnosed between birth and 5 years of age. ONLY about 100 cases of hepatoblastoma
are diagnosed each year. Only 25% of children who are Stage IV at diagnosis survive.
This tumor is treated with chemotherapy and surgery. (85% percent of the liver can
be safely removed during surgery as the liver can regenerate itself within a few
months of surgery.)
HYDROCEPHALUS:Hydrocephalus occurs when fluid in the brain cannot drain, causing increased pressure in the brain. A shunt is surgically placed to drain the fluid and prevent damage.
HYDRONEPHROSIS, PRUNE BELLY SYNDROME: Prune Belly-Also known as Eagle-Barrett Syndrome. These children are born without their abdominal wall muscles, which gives the abdomen a shriveled prune-like appearance. Boys can have undescended testicles and there can be associated urinary tract abnormalities involving the bladder and kidneys leading to chronic renal failure.
INTESTINAL LYMPHANGIECTASIA: The etiology and prevalence of Primary Intestinal Lymphangiectasia is not known. This disorder is the result of improperly formed intestinal lymph vessels. As a result the lymphatic fluid is not properly carried away and it leaks back into the intestine, preventing the absorption of fats, protein and nutrients into the bloodstream. Along with loss of proteins, there is also loss of white blood cells and antibodies that are important for fighting infection, vitamins, and calcium. The cornerstone of medical management in PIL is dietary. A low fat, high protein diet with nutritional supplementation is required.
JUVENILE IDIOPATHIC ARTHRITIS: Also known as Juvenile Rheumatoid Arthritis. JIA is a chronic disease that can affect joints in any part of the body. The immune system mistakenly targets the synovium which is the tissue that lines the inside of the joints. The synovium responds by becoming inflamed and making excess fluid which leads to swelling and pain. Eventually the surrounding tissue can be affected and this can lead to damage of the bone and cartilage. The heart, lungs and eyes can also be affected. JIA is diagnosed before the age of 16 and is classified by the symptoms and number of joints. There is no exact cause or known way to prevent JIA.
KIDNEY FAILURE AND TRANSPLANT: Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys filter waste and extra fluid from the blood to form urine. As the cysts form and grow in size and number, they replace the normal kidney structure resulting in decreased kidney function and ultimately kidney failure, requiring transplant.
KOHLER DISEASE: Kohler Disease is a rare condition that usually occurs in children 3-7 years of age. While the exact cause is unknown, the blood supply to the navicular bone of the foot is interrupted and areas of necrosis (death) develop in the bone. The child will begin to experience pain and swelling of the foot as well as difficulty walking. Treatment includes orthopedic evaluation and casting.
KYPHOSIS: Kyphosis a forward rounding of the upper spine, commonly referred to as “hunchback”. Severe kyphosis can cause pain, difficulty breathing and leg weakness or paralysis. In these cases surgical intervention is required.
LYMPHOBLASTIC LYMPHOMA (LL): The lymphatic system is a disease-fighting network that is spread throughout our bodies. Lymphoblastic lymphoma is a cancer of the lymph system that mainly affects children and teenagers. LL is an aggressive, fast-growing and needs immediate treatment with a combination of chemotherapy drugs. It is very simliar to ALL (acute lyphocytic leukemia) because the same cell line, the lymphocytes, are affected. In ALL the abnormal cells are found in the blood, in LL the abnornal cells are found in the lymph system. With current treatment, more than 80% of children and adolescents with LL will survive at least 5 years.
LEUKEMIA (ACUTE LYMPHOTIC LEUKEMIA): ALL is a cancer of the white blood cells, the cells that normally fight infections. ALL is the most commonly cancer diagnosed in childhood and accounts for about 1/3 of all childhood cancers. There are ~3000 new cases diagnosed in the US each year. While ALL is associated with a few inherited genetic syndromes such as Down Syndrome, the cause remains largely unknown. The cure rate for ALL is approaching 80%. ALL is usually diagnosed between the ages of 2-5 years and typically presents with fatigue, anemia, easy bleeding, leg pain or fever.
LEUKEMIA (ACUTE MYELOID LEUKEMIA): Leukemia is cancer of the blood. AML refers to cancer of a specific type of white blood cell called a myeloid cell. These abnormal white blood cells reproduce quickly and crowd all of the normal red blood cells, white blood cells and platelets out of the bone marrow. This can cause the child to have recurrent, unexplained infections, anemia and easy bruising and bleeding. Treatment includes chemotherapy, radiation and stem cell transplant. There are about 500 cases of AML diagnosed each year in the US accounting for about 20% of all childhood leukemias diagnosed each year. Approximately 70% of AML patients achieve long-term remission.
LEUKEMIA (BURKITT’S): Leukemia is cancer of the white blood cells. Burkitt’s Leukemia is a very rare type of acute leukemia in children. It accounts for 2-3 % of all childhood leukemias. It requires a more aggressive treatment plan and has a worse prognosis if the child relapses.
LUPUS and ANTIPHOSPHOLIPID SYNDROME (APS): Lupus is a chronic autoimmune disease that can damage any part of the body including the skin, joints or internal organs. The immune system is the part of our body that produces antibodies to fight off foreign invaders like viruses, bacteria and germs. In lupus, something goes wrong with the immune system and it can no longer tell the difference between normal healthy tissue and the foreign invaders. The body begins to produce antibodies (autoantibodies) that attack normal healthy tissues of the body causing widespread inflammation, pain and irreversible damage. There is no cure for lupus and it can be life threatening when it affects vital organs like the brain, heart, lungs or kidneys. APS is also an autoimmune disease often associated with lupus. It causes blood clots in both veins and arteries leading to clots in veins of the legs, liver and lungs. Arteries can also develop clots leading to stroke and heart attacks.
LUPUS: Systemic Lupus Erythomatosus & Lupus Nephritis: Systemic Lupus Erythomatosus & Lupus Nephritis: Systemic lupus erythematosus is an autoimmune disease. Our immune system is what protects us against viruses and bacteria. In Lupus, the immune system mistakenly attacks the body itself. Lupus has no known cause or cure. It can affect almost any part of the body and often many parts at once. The skin, joints, and many vital organs like the heart, lungs and brain can be affected. Lupus tends to be more severe in children. In the 1950s, children had only a 30-40% survival rate. More powerful medicines are now available that have improved the quality of life for many lupus patients. Lupus Nephritis is one of the most serious manifestations of lupus. When the kidneys are affected it can lead to high blood pressure and even renal failure.
Lymphoma: The term lymphoma refers to cancers of the lymphatic system. The lymphatic system drains excess fluids from tissues of the body and it also helps protect the body against infections. Treatment depends on the specific type and stage of the cancer.
MALIGNANT BRAIN TUMOR: Malignant Brain Tumor refers to a cancerous brain tumor that will often require a combination of surgery, chemotherapy and radiation to treat.
MEDULLARY CYSTIC DISEASE: Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
MEDULLOBLASTOMA: Medulloblastoma is the most common brain tumor of childhood.
It is a fast growing tumor usually treated with surgery and chemotherapy and sometimes radiation. The five-year survival rate is about 50%. It develops in the cerebellum which
is the part of the brain that regulates muscle tone and coordination of movement.
MAPLE SYRUP URINE DISEASE: MSUD is an inherited genetic defect that makes the body unable to break down certain amino acids. Amino acids are the building blocks of proteins. Proteins are linear chains of amino acids. In MSUD the amino acids can build up in the blood and cause brain damage leading to mental retardation, seizures and even death. The buildup of these proteins causes the child’s urine to smell like maple syrup. Treatment includes a special protein free diet including a special formula for infants. Even with dietary treatment, stressful situation or illness can cause high levels of these amino acids. Stick dietary guidelines, close monitoring and frequent blood tests are required so that these children can grow into healthy adulthood.
MENINGOCOCCAL DISEASE: Meningococcal disease describes infections caused by the bacterium Neisseria meningitids. It causes both meningitis and infections of the blood and is a major cause of illness, death and disability worldwide. Even with proper antibiotic treatment many people who have meningococcal disease will die or have permanent disabilities. This deadly bacterium produces a toxin that can affect the heart and decrease its ability to circulate blood. It also causes blood vessels to become leaky and rupture. This leads to poor oxygenation of tissues especially in the arms and legs. Amputation of the arms and legs may become necessary for survival.
MITOCHONDRIAL DYSFUNCTION: Mitochondria are tiny organelles inside almost every cell in our bodies. They create more than 90% of our cellular energy. They are necessary to sustain life and support growth. Mitochondrial failure leads to cell injury, cell death and if enough cells die, organ failure. These children exhibit poor growth, muscle weakness, seizures, autism spectrum disorders, developmental delays, and heart, liver and kidney disease. It is an inherited disorder, affecting 1 in every 4,000 children in the US. It can also come from exposure to toxin that causes mitochondrial damage. There is no cure but treatment is aimed at slowing progression and improving symptoms. Strategies include adequate nutrition, vitamins, conserving energy, avoiding exposure to illness or extreme temperatures.
MOYA MOYA SYNDROME: Moyamoya is a word of Japanese origin meaning “puff of smoke”. Moya Moya Syndrome is progressive disease of the blood vessels of the brain in which the vessels become occluded. Because this is a slow process, the body develops collateral vessels around these occluded vessels that have a “puff of smoke” appearance. The exact etiology is unknown but there is a higher incidence in people who also have immune abnormalities. Moyamoya has been diagnosed in people ages 6 months to 67 years. They can have hemiparesis, headaches, dizziness, seizures, mental retardation and strokes. Treatment is directed at controlling these complications.
MULTI-ORGAN TRANSPLANT: Organ transplantation is a medical procedure in which an organ ( one or multiple organs) is removed from one body and placed in the body of a recipient, to replace a damaged or missing organ.
MUSCULAR DYSTROPHY: Muscular dystrophy is the term used to describe a group of inherited genetic defects that affect important muscle proteins and cause progressive muscle weakness. There are 9 different kinds of muscular dystrophy. Some of these include Limb-girdle muscular dystrophy (LGMD). This particular type of muscular dystrophy causes weakness in the muscles around the upper arms and shoulders. Onset is late childhood/early adulthood. Facioscapulohumeral muscular dystrophy affects muscles of the face, shoulders, upper arms and sometimes the hips and legs. Onset is late childhood/early adulthood. Congenital muscular dystrophy presents with muscle weakness that begins in infancy or very early childhood. Mersin is one muscle proteins that can be absent or present with congenital muscular dystrophies.
MYOTONIC DYSTOPHY: Mytonic Dystrophy is an inherited disorder of muscle function. It is characterized by muscle weakness and myotonia (slow relaxation of the muscles after contraction). It can affect other organs such as the eyes (cataracts), heart (dysrhythmias), and pancreas (diabetes). Symptoms vary from person to person and tend to worsen over the years. Myotonic dystrophy affects 1 in every 20,000 people. It has several different forms with the congenital form being the most severe. These children are born with weak muscles, difficulty and about 50% of them will be mental impaired.
NEUROBLASTOMA: Neruoblastoma is a malignant tumor that develops from nerve tissue. This tumor most commonly begins in the abdomen in the adrenal glands. The adrenal glands sit on top of each kidney and produce and releases several different hormones that maintain internal fluid levels, sodium or potassium levels and adrenalin levels. This tumor affects 1 in a 100, 000 kids and is usually diagnosed before the age of 5 years.
NF1 NEUROFIBROMATOSIS: Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children.
OPITZ SYNDROME: Opitz syndrome is an inherited condition that has many different symptoms most of which affect organs along the midline of the body. These include wide-spaced eyes, defects in the esophagus, trachea and larynx, heart defects, abnormalities of the genitalia and structural brain defects. About 1 in 50-100,000 males in the US have Opitz Syndrome. About 50% of males affected have mild intellectual impairment felt to be related to the structural brain abnormalities.
Optic Pathway Glioma brain tumor: Optic Pathway Gliomas represents 3-5% of all childhood brain tumors. They are usually diagnosed in the first decade of life. If diagnosed before 5 years of age, they tend to have a worse prognosis. This particular brain tumor is usually benign (non-cancerous) and slow growing. This tumor occurs along the optic pathway, the nerves that send messages from the eye to the brain (the optic pathway) and can occur anywhere along its path. The most common presenting symptom is diminished vision. If the tumor becomes large enough it can cause increased pressure in the brain. Treatment options include chemotherapy, radiation or sometimes surgery.
OSTEOGENSIS IMPERFECTA: More commonly known as Brittle Bone Disease. OI is a genetic disorder characterized by bones that break easily without or due to very minor trauma. Collagen is the major protein of the body’s connective tissue which is the framework of the body. In OI the body doesn’t produce enough collagen or the collagen that it produces is of very poor quality. Because it is a genetic disease, there is no cure. Treatment uses diet and therapy to optimize bone mass and muscle strength. Orthopedic care is a pillar of treatment for these patients providing fracture care and treatment for scoliosis which is common for OI. Rodding is a surgical procedure where metal rods are inserted into the long bones of the body to strengthen them.
OSTEOSARCOMA: Osteosarcoma is the most common type of bone cancer in children and adolescents. It occurs in the bones above or below the knee or in the upper arm. There are approximately 400 new cases diagnosed in the US each year. Osteosarcoma develops from osteoblasts ( cells that make growing bone) so it most commonly affects teen boys in the middle of a growth spurt. The tumor commonly presents with pain, a limp, swelling or a nontrumatic fracture of the affected limb. Treatment is chemotherapy and surgery. Before the 1970s, amputation was the only surgical option. Now, with localized disease, over 95% of osteosarcoma patients can have limb-salvage surgery. With treatment, approximately 70% of children with osteosacrcoma survive.
OVARIAN GERM CELL TUMOR: Germ cell tumors are tumors that are compromised of germ cells which are the embryonic cells that develop in to the reproductive systems of both males and females (ovaries and testicles). Germ cell tumors are very rare, only 2.4 out of every 1 million children per year will develop this type of tumor. The cause of these tumors is not completely understood. They can spread to other parts of the body including lungs, lymph nodes and the brain. Treatment includes surgery, radiation, chemotherapy and bone marrow transplant. Ovarian germ cell tumors are uncommon but aggressive tumors most often seen in young women, preteen and adolescent girls. They are generally curable if found and treated early.
PIERRE ROBIN SYNDROME: Pierre Robin Syndrome is a condition present at birth in which the infant has a smaller than normal lower jaw, and a large appearing tongue that falls back into the throat and difficulty breathing. The child may also have a cleft palate which leads to feeding difficulties and recurrent ear infections. Treatment focuses on optimizing breathing and feeding in these infants until the lower jaw grows enough to allow normal breathing and feeding. In severe cases surgical intervention may be required. Most PRS children eventually grow to lead a normal, healthy adult life.
PILOMYXOID ASTROCYTOMA (PMA): PMA is a type of brain cancer largely seen in children. It is a type of brain tumor that arises from the supportive tissue of the brain. This specific type of tumor was first identified by doctors at John’s Hopkins Hospital in 1999. Because of the recent recognition of PMA as a distinct type of tumor, little is known at present about the natural history, response to treatment and the long term prognosis for these patients. Surgery continues to be the mainstay of treatment. The overall success of the surgery depends on the location of the tumor and how much of it can be surgically removed.
PONTOCEREBELLAR HYPOPLASIA: Pontocerebellar hypoplasia is characterized by impaired brain development, global developmental delays, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into early adulthood. The treatment of PCH is entirely symptomatic and supportive and may include physical, occupational and speech therapy.
POLYCYSTIC KIDNEY DISEASE: Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys filter waste and extra fluid from the blood to form urine. As the cysts form and grow in size and number, they replace the normal kidney structure resulting in decreased kidney function and ultimately kidney failure, requiring transplant.
PRUNE BELLY SYNDROME: Also known as Eagle-Barrett Syndrome. These children are born without their abdominal wall muscles, which gives the abdomen a shriveled prune-like appearance. Boys can have undescended testicles and there can be associated urinary tract abnormalities involving the bladder and kidneys leading to chronic renal failure.
PULMONARY HYPERTENSION: Pulmonary hypertension occurs when there is abnormally high blood pressure in the arteries of the lungs. The right side of the heart pumps blood to the lungs where it picks up oxygen. The blood then returns to the left side of the heart where it is pumped to the whole body. As the pressure increases in the pulmonary arteries, the right side of the heart needs to work harder to force the blood through the lungs. This can eventually lead to right sided heart failure. There are many different causes of PH. It can be associated with other conditions or it may be idiopathic (no known cause).
JUVENILE PILOCYTIC ASTOSCYTOMA: Pylocytic Astrocytomas are the most common benign brain tumors found in children. This tumor is slow growing tumor so spread to other parts of the body is unlikely. Symptoms of a JPA will vary depending upon the size and location of the tumor. The most common symptoms include headaches, nausea, and vomiting which are a result of the increased pressure in the skull due to the size of the tumor. If the tumor is located in the cerebellum it can cause weakness, clumsiness or difficulty walking. If it located along the optic nerve there can be loss of vision or protrusion of the eyes. These children can also suffer seizures, memory loss or impairment of their ability to speak. Sometimes because of the benign nature of this tumor, these children are just observed and followed closely with MRIs. In some cases, surgery or radiation therapy or surgery is necessary.
PRIMATIVE NEUROECTODERMAL TUMORS (PNETs): PNETs are malignant tumors of the central nervous system that are usually found in infants, children and young adults. These tumors are thought to develop from the undifferentiated nerve cells that are left over from the intrauterine development of the nervous system. Theses tumors most commonly occur in the brain and spinal cord. They are treated with surgery, radiation and chemotherapy. Treatment and prognosis depends on many things including the location, size and type of tumor as well as the child’s age, health and response to treatment.
QUADRUPLE AMPUTEE SECONDARY TO MENINGOCOCCEMIA: Meningococcal disease describes infections caused by the bacterium Neisseria meningitids. It causes both meningitis and infections of the blood and is a major cause of illness, death and disability worldwide. Even with proper antibiotic treatment many people who have meningococcal disease will die or have permanent disabilities. This deadly bacterium produces a toxin that can affect the heart and decrease its ability to circulate blood. It also causes blood vessels to become leaky and rupture. This leads to poor oxygenation of tissues especially in the arms and legs. Amputation of the arms and legs may become necessary for survival.
RASMUSSEN’S SYNDROME: Rasmussen’s Syndrome is an autoimmune disorder that causes inflammation of one side of the brain. Antibodies in the blood bind to the nerve cells and cause inflammation that can lead to seizures, paralysis on one side of the body, blindness in one eye, loss of speech and mental deterioration. What triggers this abnormal immune response is not known. The inflammation will eventually burn itself out but the neurological damage is irreversible. Early diagnosis and treatment improve outcome. Rasmussens’s Syndrome is usually diagnosed in children less than 15 years old, most commonly around 5 years of age.
RENAL VASCULAR HYPERTENSION & SICKLE CELL:Renal Vascular Hypertension is high blood pressure due to narrowing of the arteries that carry blood to the kidneys. This condition is also called renal artery stenosis. Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal sickle or crescent shape. Red blood cells carry oxygen to the body and are normally shaped like a disc.
RESTRICTIVE CARDIOMYOPATHY– Restrictive cardiomyopathy is a rare disease of the heart muscle diagnosed in about 1 of every million kids. The walls of the lower chambers of the heart become stiff. Because of the stiffness they cannot relax and allow the heart to fill with blood. While the heart can still pump normally, there is not enough blood in the heart to adequately meet the body’s metabolic needs. Treatment includes medications to control symptoms and in some cases a heart transplant is required.
RETINOBLASTOMA:A rare cancerous tumor of the part of the eye called the retina. It is usually diagnosed in children less than 6 years old and can affect one or both eyes. Treatment depends on the size and location of the tumor. Treatment options include laser surgery, radiation, or chemotherapy if the tumor spreads beyond the eye itself. Treatment of this cancerous tumor of the eye can lead to blindness. Sometimes removal of the affected eye is required.
ROBERTS SYNDROM: is a genetic disorder characterized by limb and facial abnormalities. Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs.
SCOLIOSIS: Scoliosis is defined as the sideways curvature of the spine The can be caused by conditions such as Ceberal Palsy or Muscular Dystrophy but in most cases the cause is unknown. It can be present from birth and would then be called Congenital Scoliosis. Severe scoliosis can reduce the area of space in the chest, making it difficult for the heart and lungs to function properly. Surgical intervention would be required in this case. Mild scoliosis may require little or no treatment.
SECKEL SYNDROME: is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight. Growth delays continue after birth, resulting in dwarfism. Other symptoms and physical features associated with Seckel syndrome include an abnormally small head; varying degrees of mental retardation; and/or unusual characteristic facial features including “beak-like” nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw. In addition, some affected infants may have boney abnormalities including hand arm and hip malformations as well as or other physical abnormalities.
SHORT BOWEL (GUT) SYNDROME: Short bowel syndrome is a condition in which the body cannot absorb enough fluids and nutrients because part of the small intestine is missing (usually due to prior surgery or illness), or is not working properly. Treatment includes finding alternate ways to provide the necessary fluids and nutrients that the body needs to survive.
SICKLE CELL ANEMIA: Sickle cell anemia is an inherited hemoglobin abnormality of the red blood cells that changes the shape of the red blood cell from a smooth disc shape to a crescent /sickle shape. Because of this, the cells cannot carry as much oxygen to the body organs and tissues. They are also very fragile and tend to get stuck as they try to circulate through the body. This causes painful episodes that can last for hours to days and can require hospitalization. There is no widely available cure for this disease.
SPINA BIFIDA: Spina Bifida is the most common neural tube defects in the United States, affecting about 1,500 babies each year. During the first month of fetal development, the backbones, the spinal cord and its coverings fail to develop normally. The bones of the spinal column do not form completely, allowing the spinal cord and it’s coverings to stick outside the child’s back. This most commonly occurs along the lower part of the back. This can usually be surgically corrected. Unfortunately, the neurological damage is irreversible, leaving the child with permanent weakness or paralysis of the legs.
SPINAL CORD INJURY: Spinal cord trauma is damage to the spinal cord. It may result from direct injury to the cord itself or indirectly from disease of the surrounding bones, tissues, or blood vessels.
SPINAL MUSCLE ATROPHY: SMA is a genetic disorder in which loss of nerve cells in the spinal cord called motor neurons affect the part of the nervous system that controls voluntary movement. There is a deficiency of a motor neuron protein that is necessary for the survival of motor neuron cells. The muscles are normal but they become weak as a result of the loss of the signal to contract that is transmitted from the spinal cord. These children will often develop scoliosis and respiratory problems. It is noted in the literature that these children are unusually intelligent and sociable. There is no cure or specific drug therapy available for children with SMA.
STROKE with HEMIPLEGIA: A stroke occurs if the flow of oxygen-rich blood to a portion of the brain is blocked. Without oxygen, brain cells start to die after a few minutes. Sudden bleeding in the brain also can cause a stroke if it damages brain cells. If brain cells die or are damaged because of a stroke, symptoms occur in the parts of the body that these brain cells control. Examples of stroke symptoms include sudden weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing. Children usually recover better than adults do because their brains are still growing. However, children experience permanent complications from stroke, such as seizures, weakness and vision problems.
Strokes can cause damage to the part of the brain that controls muscle movements. The damage to the brain can cause HEMIPLEGIA, which means that the paralysis is on one vertical half of the body, including the arm and leg on the affected side. The paralysis occurs on the side opposite the affected part of the brain. For example, if the stroke is in the left side of the brain, then the paralysis will be on the right side of the child’s body.
THORACIC INSUFFICIENCY SYNDROME: The thorax includes the spine, ribs and sternum. TIS is the inability of the thorax to support normal breathing or lung growth due to a rare congenital condition of scoliosis and missing or fused ribs or other chest wall deformities. Treatment is surgical. A vertical expansion prosthetic titanium rib (VEPTR) is placed in the chest wall correct the deformities and allow for normal growth and breathing. Without this surgery, these children will not have a normal life expectancy.
TRACHEOMALACIA: Normally the walls of the trachea (windpipe) are rigid allowing for easy passage of air into the lungs. In tracheomalacia the walls of the trachea are weak and floppy. As the child or infant takes a breath in, the walls of the trachea collapse making it difficult for air to pass freely into the lungs. If severe enough a tracheostomy may be performed to help prevent complications such as aspiration of food into the lungs or infections.
TRUNCUS ARTERIOSIS: Structurally normal hearts have an aorta that arises from the left side of the heart which pumps oxygenated blood to the body and a pulmonary artery which pumps blood from the heart to the lungs so it can be oxygenated. Children with Truncus Arteriosis are born with a single vessel that replaces the aorta and the pulmonary artery. These children require surgery soon after birth. If they can be completely surgically repaired they typically do very well.
TRANSVERSE MYELITIS: Transverse Myelitis is a condition that results from inflammation of the myelin across one level or segment of the spinal cord. Myelin is the insulating material that covers the nerve cell fibers of the spinal cord. The inflammation causes scarring and interrupts the communication between the spinal cord and the rest of the body. The level of the spinal cord at which the damage occurs, determines which parts of the body are affected. The exact cause of TM is not known. 1400 new cases of TM are diagnosed each year in the US. No effective cure currently exists, but most children with TM experience at least partial recovery.
VATER SYNDROME: VATER Syndrome is a rare association of birth defects that include:
V: Abnormally formed Vertebrae (back bones)
A: Anal anomalies, such as anal atresia (no anal opening)
T: Tracheal problems such as a connection between the trachea and esophagus
E: Esophageal atresia (part of the esophagus is missing)
R: Renal (kidney) abnormalities or Radial abnormalities (bones in the arm are formed abnormally or the thumb may be missing)
These children can also have heart conditions. They are usually physically
developmentally delayed because of the many physical problems but are mentally intact.
VELOCARDIOFACIAL SYNDROME: VCFS is a genetic syndrome characterized by some form of congenital heart disease, cleft palate, immune deficiencies, abnormal facies, learning disabilities and any combination of over 180 other clinical findings. These abnormalities can effect almost every system in the body including the eyes, ears, nose, brain, kidneys and extremities as well as the endocrine and immune systems. There is no cure and treatment involves managing the child’s symptoms. It is estimated that VCFS affects 1 in 4,000 people. It is the second most common genetic defect in the population, second only to Down Syndrome.
WILM’S TUMOR: Wilms Tumor, while very rare, is the most common type of childhood kidney cancer. It is also known as nephroblastoma. Wilms tumor can affect both kidneys but usually occurs in just one. It is most commonly diagnosed in children between 3-8 years of age. The treatment is surgical but can include other treatments if the cancer has spread beyond the kidney. Children whose tumor has not spread have a 90% cure rate.