Coffin-Siris syndrome [Supplementary Concept]

A hereditary autosomal recessive neurodevelopmental syndrome with broad phenotypic and genetic variability. Affected individuals generally have intellectual disability, coarse facial features, HYPERTRICHOSIS, and hypoplastic or absent fifth fingernails or toenails. Other abnormalities include PTOSIS; CHOANAL ATRESIA, cardiac defects, and genital anomalies. Mutations in components of the SWI/SNF CHROMATIN REMODELING complex have been identified. OMIM: 135900

Date introduced: August 25, 2010

MeSH Unique ID: C536436

Heading Mapped to:

• Abnormalities, Multiple
• Face/abnormalities
• Hand Deformities, Congenital
• Intellectual Disability
• Micrognathism
• Neck/abnormalities

Entry Terms:

• Fifth digit syndrome
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features