Living with X-linked congenital generalized hypertrichosis
A rare skin condition present at birth with extra hair over the whole body in males and milder, uneven extra hair in females.
Understanding X-linked congenital generalized hypertrichosis
Males have hair overgrowth over the whole body. Females have milder and uneven overgrowth. It can come with mild facial differences such as upturned nostrils and a slightly protruding jaw, and sometimes tooth differences and deafness. GARD says it is important to know if it occurs alone or as part of a genetic syndrome.
Signs & symptoms
GARD doesn't list a common-symptom list, but its summary describes these:
- Extra hair over the whole body in males
- Mild, uneven extra hair in females
- Upturned nostrils
- Slight jaw protrusion
- Tooth differences
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SOX3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is linked to the SOX3 gene and is caused by a specific X chromosome change. It follows X-linked inheritance.
Also known as: chromosome xq27.1 interchromosomal insertion syndrome; congenital generalised hypertrichosis, macias-flores type; congenital generalized hypertrichosis, macias-flores type; hypertrichosis, congenital generalized; hypertrichosis, congenital generalized, 2; hypertrichosis, congenital generalized, x-linked dominant
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked congenital generalized hypertrichosis.
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