X-linked congenital generalized hypertrichosis

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Disease Overview

X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease.  It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome.[11807][11809] Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome.  Treatment includes standard methods for hair removal such as shaving, laser hair removal, electrolysis, chemical methods and others.[11812]


Synonyms

  • Chromosome Xq27.1 interchromosomal insertion syndrome
  • Hypertrichosis congenital generalized X-linked
  • Congenital generalized hypertrichosis, Macias-Flores type
  • Macias Flores-Garcia Cruz-Rivera syndrome
  • HTC2
  • CGH
  • HCG
  • Macias-Flores Garcia-Cruz Rivera syndrome

For more information, visit GARD.

National Organization for Rare Disorders