Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 20-05-2015
Symbol FSS
Location 17p13.1
Name Freeman Sheldon syndrome
Other name(s)
  • arthrogryposis distal type 2A
  • craniocarpal dysplasia
  • whistling face syndrome
  • Corresponding gene MYH3
    Other symbol(s) DA2A
    Main clinical features craniocarpotarsal dystrophy, with skeletal malformations, camptodactyly with ulnar deviation, talipes equinovarus, and an abnormal x-ray appearance of the floor of the anterior cranial fossa of the skull, facial characteristics include deep-sunken eyes with hypertelorism, increased philtrum length, small nose and nostrils, and a small mouth
    Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense     R672C and R672H, predicted to create small local structural changes in myosin that could affect the conformation of the nucleotide binding site