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Upper limb mesomelic dysplasia

Disease definition

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

ORPHA:2497

Classification level: Disorder
  • Synonym(s):
    • Fryns-Hofkens-Fabry syndrome
    • Ulna hypoplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 191440
  • UMLS: C1860614
  • MeSH: -
  • GARD: 2408
  • MedDRA: -
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