gingival fibromatosis-hypertrichosis syndrome
Findings
No curated finding names gingival fibromatosis-hypertrichosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gingival fibromatosis - hypertrichosis syndrome 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.
Definition from the Mondo Disease Ontology (MONDO:0007610), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Gingival fibromatosisHPOHP:0000169
- Very frequent (80% to 99% of cases)
- HirsutismHPOHP:0001007
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- EEG abnormality
Show the remaining 5
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
- Thick eyebrowHPOHP:0000574
- Occasional (5% to 29% of cases)
- Thick nasal alaeHPOHP:0009928
- Occasional (5% to 29% of cases)
- Wide nasal baseHPOHP:0012810
- Occasional (5% to 29% of cases)
- Congenital, generalized hypertrichosisHPOHP:0004540
- Congenital onset
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.
- ABCA5HGNC:35
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: gingival fibromatosis-hypertrichosis syndrome
- Also called
- CGHTcongenital generalised hypertrichosis terminaliscongenital generalized hypertrichosis terminalishirsutism-congenital gingival hyperplasia syndromehypertrichosis with or without gingival hyperplasiahypertrichosis, congenital generalized, with gingival hyperplasia