MeSH Browser

MeSH Supplementary: Coffin-Siris syndrome
Unique ID: C536436
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536436
Entry Term(s): Fifth digit syndrome; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; Face / *abnormalities; *Hand Deformities, Congenital; *Intellectual Disability; *Micrognathism; Neck / *abnormalities
Frequency: 118
Note: 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 of Entry: 2010/08/25
Revision Date: 2020/02/28

Coffin-Siris syndrome MeSH Supplementary Concept Data 2024