Coffin-siris syndrome - Altmeyers Encyclopedia

Synonym(s)

Fifth digit syndromes; MIM 135900

History
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Coffin and Siris, 1970

Definition
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Distinct dysmorphia syndrome with dwarfism and developmental delay, sparse scalp hair and phalange hypoplasia.

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Dermatology

Poikiloderma, actinic

Light-induced poikiloderma, especially in the face and neck, on the trunk, also on hands and forearms.

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Etiopathogenesis
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Mutations have been detected in the ARID1A gene (AT-Rich Interaction Domain 1A), a protein-coding gene located on chromosome 1p36.11 (Kosho Tet al. 2014). Further mutations have been described in the genes: SMARCB1, SMARCA4 and SMARCE1.

Clinical features
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Growth retardation, microcephaly, epilepsy, trichodystrophy, diffuse alopecia, hypertrichosis in the back, upper arms and thighs, tooth enamel hypoplasia, clinodactyly of the 5th finger and toes. Susceptibility to respiratory infections.

Literature
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Brunetti-Pierri N et al (2003) Premature thelarche in Coffin-Siris syndrome. Am J Med Genet 121A: 174-176
Carey JC, Hall BD (1978) The Coffin-Siris syndrome. Am J Dis Child 132: 667-671
Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433-439
Fleck BJ et al (2001) Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99: 1-7
Imai T et al (2001) Dandy-Walker variant in Coffin-Siris syndrome. Am J Med Genet 100: 152-155
Kosho Tet al (2014) Coffin-Siris Syndrome International Collaborators. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet 166C:262-275.