SNP Shot: Genomic Insights

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a condition notable for causing joint contractures, which limit movement, particularly in the hands and feet. The name "arthrogryposis" is derived from Greek terms meaning "joint" (arthro-) and "crooked" (gryposis). The term "distal" indicates that it affects areas furthest from the body's center. Key characteristics of the syndrome are permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand abnormality called ulnar deviation, where the fingers angle towards the little finger. Clubfoot, characterized by inward and upward turning feet, is also frequently observed. While hand and foot abnormalities vary between individuals, they are present at birth and typically remain stable over time.

Individuals with Sheldon-Hall syndrome typically exhibit specific facial features, including a triangular face shape, eyes that slant downward at the outer corners (down-slanting palpebral fissures), prominent folds between the nose and lips (nasolabial folds), and a small mouth combined with a high-arched palate. Additional features sometimes seen include webbing of the neck and short stature.

Generally, Sheldon-Hall syndrome does not impact other bodily systems, and cognitive abilities and lifespan are within the normal range.

Inheritance:

The inheritance pattern of this syndrome is autosomal dominant, meaning that only one copy of the mutated gene is needed in each cell to cause the condition. Approximately half of affected individuals inherit the mutation from a parent who also has the syndrome. The remaining cases arise from new, spontaneous mutations in the gene, occurring in individuals with no prior family history of the condition.