X-linked congenital generalized…

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X-linked congenital generalized hypertrichosis

ORPHA:79495Clinical subtype

Also called Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

What it is

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.

Key facts

Inheritance
X-linked dominant
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
<1 / 1 000 000Hypertrichosis lanuginosa congenita

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

SOX3Disease-causing germline mutation(s)

ICD-10 codes

Q84.2filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 2863MESH C538388MONDO 0010614OMIM 307150UMLS C1855900

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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