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acrocephalosyndactyly type III (Saethre-Chotzen syndrome)

Pathology: - craniosynostosis syndrome Genetics: - associated with defects in TWIST1 Clinical manifestations: - coronal synostosis - brachycephaly - low frontal hairline - facial asymmetry - hypertelorism - broad halluces - clinodactyly

General

acrocephalosyndactyly

Database Correlations

OMIM 101400

References

  1. Howard TD et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet 15:36-41, 1997 PMID: 8988166
  2. el Ghouzzi et al Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet 15:342-46, 1997 PMID: 8988167
  3. OMIM :accession 101400