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Hypertrichosis cubiti

Disease definition

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.

ORPHA:2220

Classification level: Disorder
  • Synonym(s):
    • Hairy elbows syndrome
    • MacDermot-Patton-Williams syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q84.2
  • OMIM: 139600
  • UMLS: C1841696
  • MeSH: -
  • GARD: 143
  • MedDRA: 10068636
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