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X-linked congenital generalized hypertrichosis

Disease definition

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

ORPHA:79495

Classification level: Subtype of disorder
  • Synonym(s):
    • Congenital generalized hypertrichosis, Macias-Flores type
    • Macias Flores-Garcia Cruz-Rivera syndrome
  • Prevalence: -
  • Inheritance: X-linked dominant 
  • Age of onset: -
  • ICD-10: Q84.2
  • OMIM: 307150
  • UMLS: C2931836
  • MeSH: C538388
  • GARD: 2863
  • MedDRA: -
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