Gingival fibromatosis-hypertrichosis…

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Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Malformation syndrome

Also called CGHT · Congenital generalized hypertrichosis terminalis · Hirsutism-congenital gingival hyperplasia syndrome · Hypertrichosis with or without gingival hyperplasia

What it is

A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Recorded for the broader condition

Prevalence
6-9 / 10 000Ectodermal dysplasia syndrome

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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ABCA5Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

L68.8filed under a broader ICD-10 category

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 2324MONDO 0007610OMIM 135400UMLS C4274889

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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