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Coffin-Siris syndrome MeSH Supplementary Concept Data 2025


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 Numbers
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 Preferred
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