In collaboration with Children's Hospital of Philadelphia and the 22q11.2 Society
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the [...]
Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known [...]
Albinism is a recessive genetic condition that causes the absence or reduction of pigmentation in the hair, skin and eyes.
Alternating hemiplegia of Childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may [...]
An amputation is the surgical removal of part of the body, such as an arm or leg. Prosthetics are otherwise [...]
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. [...]
Arthrogryposis multiplex congenita (AMC), commonly referred to as arthrogryposis, is the medical term describing the presence of multiple congenital contractures. [...]
Autism Spectrum Disorder What is ASD? Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people [...]
CFC syndrome is a rare genetic condition that typically affects the heart (cardio), facial features (facio) and skin (cutaneous). Children [...]
Cerebral Palsy is a collection of movement disorders resulting from a malformation or injurious event to the developing brain that [...]
11q terminal deletion disorder is a rare genetic disorder. About 1 baby in 100,000 is born with Jacobsen syndrome. The [...]
Chromosome 18 includes 18p-, 18q-, Ring 18, Tetrasomy 18p, and Trisomy 18. 18p can cause heart defects and holoprosencephaly, a [...]
Common features associated with 22q11.2 deletion syndrome include cleft palate, abnormalities of the heart, developmental delays and learning disabilities, psychiatric [...]
