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X-linked congenital generalized hypertrichosis

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Disease Overview

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.

Synonyms

  • Cgh
  • HTC2
  • Macias Flores-Garcia Cruz-Rivera syndrome
  • Macias-Flores Garcia-Cruz Rivera syndrome
  • chromosome Xq27.1 Interchromosomal insertion syndrome
  • chromosome Xq27.1 interchromosomal insertion syndrome
  • congenital generalised hypertrichosis, Macias-Flores type
  • congenital generalized hypertrichosis, Macias-Flores type
  • hCG
  • hypertrichosis congenital generalised X-linked
  • hypertrichosis congenital generalized X-linked
  • hypertrichosis, congenital generalised
  • hypertrichosis, congenital generalized
  • hypertrichosis, congenital generalized, X-linked dominant
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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