Coffin-siris syndromeQ82.4
Synonym(s)
Fifth digit syndromes; MIM 135900
HistoryThis section has been translated automatically.
Coffin and Siris, 1970
DefinitionThis section has been translated automatically.
Distinct dysmorphia syndrome with dwarfism and developmental delay, sparse scalp hair and phalange hypoplasia.
EtiopathogenesisThis section has been translated automatically.
Evidence includes mutations in the ARID1A gene (AT-Rich Interaction Domain 1A), a protein-coding gene located on chromosome 1p36.11 (Kosho Tet al. 2014).
Clinical featuresThis section has been translated automatically.
Growth retardation, microcephaly, epilepsy, trichodystrophy, diffuse alopecia, hypertrichosis in the back, upper arms and thighs, dental enamel hypoplasia, clinodactyly of the 5th fingers and toes Susceptibility to respiratory infections.
LiteratureThis section has been translated automatically.
- 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.