National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

X-linked congenital generalized hypertrichosis



Other Names:
HTC2; CGH; HCG; HTC2; CGH; HCG; Macias-Flores Garcia-Cruz Rivera syndrome; Congenital generalized hypertrichosis, Macias-Flores type; Macias Flores-Garcia Cruz-Rivera syndrome; Chromosome Xq27.1 interchromosomal insertion syndrome; Hypertrichosis congenital generalized X-linked See More
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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.[1][2] 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.[3]
Last updated: 7/4/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Congenital, generalized hypertrichosis 0004540
Hirsutism
Excessive hairiness
0001007
X-linked dominant inheritance 0001423
X-linked inheritance 0001417
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked congenital generalized hypertrichosis. Click on the link to view a sample search on this topic.

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  1. Hypertrichosis, congenital generalized. OMIM. 2015; http://omim.org/entry/307150#.
  2. X-linked congenital generalized hypertrichosis. Orphanet. 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79495.
  3. PavoneP & cols. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Italian Journal of Pediatrics. 2015; 41:55. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526284/.