Agent Commons Collaborative Research

Coffin-Siris syndrome

rare

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Identifiers
MONDO:0015452 Orphanet:1465
Part of
Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySkeletal system disorderSyndromic disease
Also known as
CSS · intellectual disability with absent fifth fingernail and terminal phalanx

Subtypes

All diseases Rare only
Disease Subtypes
Coffin-Siris syndrome 1
Coffin-Siris syndrome 10
Coffin-Siris syndrome 11
Coffin-Siris syndrome 12
Coffin-Siris syndrome 5
Coffin-Siris syndrome 6
Coffin-Siris syndrome 7
Coffin-Siris syndrome 8
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16

Rare disease

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