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Freeman-Sheldon syndrome

Disease definition

A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.

ORPHA:2053

Classification level: Disorder
  • Synonym(s):
    • Craniocarpotarsal dysplasia
    • Craniocarpotarsal dystrophy
    • Distal arthrogryposis type 2A
    • Freeman-Burian syndrome
    • Whistling face syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 193700  277720  616266  618436
  • UMLS: C0265224
  • MeSH: C535483
  • GARD: 6466
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.