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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
  • ICD-11: LD27.0Y
  • OMIM: 307150
  • UMLS: C1855900
  • MeSH: C538388
  • GARD: 2863
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.