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Facioscapulohumeral Muscular Dystrophy
The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing the eyes, moving the face, lifting objects or walking. The disease is caused by degeneration of muscle due to a specific...
Feeding Disorders
Children with feeding disorders do not consume enough food (or liquid or a broad enough variety of food) to gain weight and grow normally.
Fragile X Syndrome
Fragile X syndrome (FXS) is the leading known inherited cause of intellectual disability and autism spectrum disorders (ASDs). Over 100,000 Americans have FXS; moreover, it is estimated that over one million are Fragile X carriers. Nationally, over one million individuals have ASDs, which is a...
Genetic Disorders
Many genetic disorders are caused by mutations or changes in the sequence of DNA that are passed from generation to generation (inherited), while others are due to abnormalities that are not inherited.
Genetic, Metabolic & Chromosomal Disorders
A syndrome is a medical term that describes individuals who have certain physical, developmental, and/or behavioral characteristics that occur due to a single underlying cause (e.g., a faulty gene or set of genes). An individual who is diagnosed with a certain syndrome may have some or all of the...
Hereditary Spastic Paraplegia (HSP)
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by spasticity with or without other neurologic symptoms.
Holoprosencephaly (HPE)
Holoprosencephaly (HPE) is a birth defect that occurs during the first few weeks of intrauterine life
Intellectual Disability
Intellectual disabilities means significantly subaverage general intellectual functioning existing concurrently with deficits in adaptive behavior and manifested during the developmental period, that adversely affects a child's educational performance. 'General intellectual functioning' is typically...
Kabuki Syndrome
Kabuki syndrome is a rare, congenital disorder characterized by distinctive facial features, growth delays, mild-to-moderate intellectual disability, skeletal abnormalities and short stature.
Krabbe Disease
Krabbe disease, also known as globoid cell leukodystrophy (GLD), is a rare autosomal recessive disease, which means both copies of the affected gene in each cell have mutations.