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GENATLAS PHENOTYPE
last update : 30-08-2010
Symbol ACPS2
Location 6p11.2
Name acrocephalosyndactyly type 2
Other name(s) Carpenter syndrome
Corresponding gene RAB23
Main clinical features
  • acrocephaly, peculiar facies, brachydactyly, and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes, obesity, and cardiac defects
  • fusion of the midline (metopic and sagittal) sutures ( severe cases have cloverleaf skull), brachydactyly with shortening or absence of the middle phalanges, molar agenesis, genu valgum, hypogenitalism, congenital cardiac defects, umbilical hernia, and learning disability
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    cardiovascular
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     L145X, mostly frequent mutation
    Remark(s)