What We Treat
Treatment of Genetic Disorders in Children
The Division of Medical Genetics at Cohen Children’s Medical Center provides comprehensive services in the diagnosis, treatment, and management of all forms of hereditary disorders:
- Lysosomal Storage Disease Center for Children and Adults
- Prenatal Carrier Testing
- Marfan Syndrome Clinic
- Neurofibromatosis Center
- Breast and Ovarian Cancer/Colon Cancer Genetic Counseling and Testing
- Hagedorn Cleft Palate and Craniofacial Center
Lysosomal Storage Disease Center for Children and Adults
Lysosomal storage diseases are inherited diseases that are caused by the lack of an enzyme in the body's cells that normally eliminates or breaks down other substances. This accumulation causes the symptoms of the disease. There are more than 40 of these inherited diseases. Most are rare but some are more common in certain ethnic groups.
Some of these diseases are:
- Gaucher disease - Type 1 causes enlargement of the liver and spleen, and bone lesions or fractures. Other types (2 and 3) cause neurological symptoms and may be more severe.
- Pompe disease - An early (infantile) severe form results from build-up of glycogen in the heart, liver and muscle, later onset forms present with progressive muscle weakness.
- Fabry disease - Typically affects males more than females; symptoms may be present in children and adolescents; it causes pain, skin rash, kidney, heart and neurological problems.
- Mucopolysaccharide storage diseases - A group of conditions that can cause mental retardation, visual problems, bony deformities, liver and spleen enlargement, and reduced life span.
The center provides all the components of care for patients and their families from initial consultation, testing and diagnosis to follow-up and treatment. We also provide genetic counseling, carrier screening and prenatal diagnosis. Patients are followed by a team of specialists familiar with advances in the treatment of Lysosomal storage disease.
Prenatal Carrier Testing
All women who are pregnant, or who are contemplating pregnancy, should consider carrier testing for genetic disorders including:
- Fragile X syndrome - the most common cause of inherited mental retardation
- Cystic fibrosis- a chronic disease that affects the lungs and digestive system
- Spinal muscular atrophy - a genetic disease that affects the part of the nervous system that controls voluntary muscle movement
Certain inherited diseases occur more frequently in a given ethnic or racial group:
Individuals of African-American, Hispanic or Mediterranean descent:
- Sickle cell anemia - a disease passed down through families in which red blood cells form an abnormal crescent shape
- Thalassemia - a disease that makes an abnormal form of hemoglobin resulting in excessive destruction of red blood cells and anemia
Individuals of Ashkenazi Jewish descent:
- Fanconi Anemia - a chronic disease in which children have short stature, birth defects, bone marrow failure and an increased risk of leukemia
- Tay-Sachs disease - a progressive degenerative neurologic disease that usually results in death by the age of four to five years
- Canavan disease - a severe neurodegenerative disease that causes seizures, an enlarged head and increased muscle tone
- Niemann-Pick disease (Type A) - another severe progressive neurologic disease of infancy that causes loss of neurologic function and enlargement of the liver and spleen
- Bloom syndrome is characterized by frequent infections, poor growth and learning disabilities with a predisposition to develop common cancers
- Mucolipidosis Type IV is a lysosomal storage disease that affects the brain and nervous system
- Gaucher disease - an inherited enzyme with effective treatment available through the Lysosomal storage disease program
- Familial Dysautonomia - characterized by failure to thrive, insensitivity to pain, blood pressure instability and frequent episodes of pneumonia
- Dihydrolipoamide dehydrogenase deficiency - recurrent episodes of vomiting and abdominal pain
- Familial hyperinsulinism - low blood sugar ranging from mild to severe
- Glycogen storage disease type 1a - a metabolic disorder that, if untreated, results in severe low blood sugar, enlarged liver, growth retardation and bleeding disorders
- Maple syrup urine disease - a metabolic disorder that affects how certain proteins in the body called amino acids are metabolized
- Nemaline myopathy - a neurologic disorder characterized by weakness and poor muscle tone usually in the neck, face and upper portions of the limbs
- Usher syndrome type III - hearing and vision problems that progressively worsen
- Usher syndrome type IF - profound deafness at birth, severe balance problems, as well as vision impairment
Marfan Syndrome Clinic
This multidisciplinary clinic was established in 1988 with patients evaluated by the divisions of Medical Genetics and Cardiology. Referrals to orthopedic and ophthalmologic services are coordinated by the genetic counselor, as needed. The clinic provides diagnosis, management, coordination of medical care, genetic counseling and education.
This multidisciplinary center is comprised of staff from the divisions of Medical Genetics and Pediatric Neurology. Referrals to orthopedic and ophthalmologic services are coordinated by the genetic counselor, as needed. The Clinic provides diagnosis, management, coordination of medical care, genetic counseling and education.
Breast and Ovarian Cancer/Colon Cancer Genetic Counseling and Testing
The division of Medical Genetics offers full genetic counseling and genetic testing services for patients with breast or ovarian cancer and colon cancer.
A complete family history is obtained for risk assessment; dominant inheritance, risk of transmission to offspring and probabilities of developing disease.
Hagedorn Cleft Palate and Craniofacial Center
This multidisciplinary clinic provides comprehensive care for children with facial clefts or other malformations. The Departments of ENT, Dentistry, Hearing and Speech, Plastic Surgery, Oral and Maxillofacial Surgery and Social Work also participate, in an effort to make treatment the most beneficial.
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