Coffin–Siris syndrome

Also known as: Fifth digit syndrome

Hypoplastic fifth digit nails with coarse facies and intellectual disability.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11

Etiology & mechanism

SWI/SNF chromatin remodeling complex defect.

Gene(s) involved (8)

ARID1AARID1BARID2DPF2SMARCA4SMARCB1SMARCE1SOX11

Symptoms & signs (6)

coarse faciesfeeding difficultyfifth digit hypoplasiahypotoniaintellectual disabilitysparse scalp hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.