WebMowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal … WebAug 30, 2002 · Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. …

Toddler receives life changing diagnosis of rare genetic condition

WebAntley-Bixler Syndrome. Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For … WebSotos syndrome – a large, long head, distinctive facial features including a protruding forehead and pointed chin, brain abnormalities and cognitive impairment, large hands … dhhs org chart michigan

Major study helps 5,500 people receive diagnosis for rare genetic …

WebA geneticist will be able to evaluate your child for the facial features characteristic of Alagille syndrome. Together, the geneticist and genetic counselor will review the results of the other diagnostic studies (such as eye exam, … WebNov 18, 2024 · Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other … Web1 day ago · Turnpenny-Fry syndrome is caused by extremely rare changes in a gene called PCGF2. The disorder causes learning difficulties, impaired growth, and distinctive facial features that include a large ... cigna health coverage