Medical Specialties

Conditions

    Achondroplasia

    Achondroplasia is a group of rare genetic (inherited) bone disorders. Achondroplasia is the most common type of what was once called dwarfism, in which the child's arms and legs are short in proportion to body length.

    Autism

    Autism spectrum disorder is a problem that affects a child’s nervous system and growth and development. It usually shows up during a child’s first 3 years of life.

    Cleft Lip and Palate

    Cleft lip and palate are openings or splits in the upper lip or roof of the mouth (palate). A child can be born with a cleft lip, cleft palate, or both. Cleft lip and palate may be the only birth defects, or they may happen with other defects.

    Down Syndrome and Other Chromosome Disorders

    Down syndrome is a genetic disorder that includes certain birth defects, learning problems, and facial features.

    Hearing Loss and Blindness

    Known or Suspected Metabolic Disorders

    Marfan Syndrome

    Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds the body's cells, organs, and other tissue together. Connective tissue is also important in growth and development.

    Mitochondrial Disease

    Detailed information on mitochondrial inheritance and Leber's optic atrophy

    Muscular Dystrophy

    Muscular dystrophy (MD) is an inherited (genetic) disorder of the muscles. It is called a neuromuscular disease. There are several types. Becker muscular dystrophy (BMD) is a rare type.

    Myelomeningocele

    Neurofibromatosis

    Phenylketonuria

    Urea Cycle Disorders

    Velocardiofacial Syndrome