Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the [...]
5p- Syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities. Each year in [...]
Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and [...]
CLOVES Syndrome stands for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis and was identified simultaneously [...]
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate [...]
A person with CLS may have craniofacial, skeletal, or cardiac abnormalities, as well as hearing impairment and cognitive, behavioral, and [...]
Coffin-Siris syndrome is a genetic condition that affects multiple body systems. Variants in the ARID1B gene are the most common [...]
CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only [...]
Costello syndrome affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial [...]
Cystic fibrosis (CF) is a life-threatening condition, which causes mucus buildup in the body, severely damaging the respiratory, digestive and [...]
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be [...]
Individuals born with Down syndrome have an extra copy of chromosome 21. The presence of an extra chromosome causes mild [...]
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins [...]
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of [...]
Dup15q Syndrome is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in the [...]
Individuals living with Down syndrome are at an increased risk of developing Early Onset Alzheimer’s Disease.
The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes [...]