X-linked congenital generalized hypertrichosis
Findings
No curated finding names X-linked congenital generalized hypertrichosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010614), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases) · Male
- Congenital, generalized hypertrichosisHPOHP:0004540
- HirsutismHPOHP:0001007
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX3HGNC:11199
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: X-linked congenital generalized hypertrichosis
- Also called
- congenital generalised hypertrichosis, Macias-Flores typecongenital generalized hypertrichosis, Macias-Flores typehypertrichosis, congenital generalized, X-linked dominantMacias Flores-Garcia Cruz-Rivera syndrome