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GENATLAS PHENOTYPE
last update : 18/11/2005
Symbol ACS3
Location 7p21.1
Name acrocephalosyndactyly III, Saethre-Chotzen syndrome
Other name(s) phenotypic overlap with other craniosynostosis syndromes
Corresponding gene TWIST1
Main clinical features
  • craniosynostosis, low set frontal hairline, parrot-beaked nose, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and simian crease,
  • minor skeletal anomalies of the spine, hands and feet (clinodactyly, hallux valgus, syndactyly)
    • Genetic determination autosomal dominant
    Related entries DEL7P21
    Function/system disorder
    Type malformation
    Gene product
    Name twist homolog 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   haploinsufficiency intragenic mutations, various types, leading to haploinsufficiency and altering FGFR2 in calvarial osteoblasts
      translocation   rare translocations with a breakpoint distal to TWIST are suggestive of a position effect
      deletion   3.5 to 10 Mb, contiguous gene syndrome with developmental delay
    other     FGFR3 P250R mutation was found in some Saethre-Chotzen-like patients
    Remark(s)