ORPHA:2026
Gingival fibromatosis-hypertrichosis syndrome
Synonyms: CGHT · Congenital generalized hypertrichosis terminalis · Hirsutism-congenital gingival hyperplasia syndrome · Hypertrichosis with or without gingival hyperplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gingival fibromatosis-hypertrichosis syndrome | CGHT · Congenital generalized hypertrichosis terminalis · Hirsutism-congenital gingival hyperplasia syndrome · Hypertrichosis with or without gingival hyperplasia |
| fr | Syndrome de fibromatose gingivale-hypertrichose | Hypertrichose avec ou sans hyperplasie gingivale · Syndrome d'hirsutisme-hyperplasie gingivale · Syndrome de fibromatose gingivale héréditaire-hyperpilosité |
| de | Gingiva-Fibromatose-Hypertrichose-Syndrom | CGHT · Hirsutismus-kongenitale gingivale Hyperplasie-Syndrom · Hypertrichose mit oder ohne gingivaler Hyperplasie · Kongenitale generalisierte Hypertrichosis terminalis |
| es | Síndrome de fibromatosis gingival-hipertricosis | CGHT · Hipertricosis con o sin hiperplasia gingival · Hipertricosis congénita generalizada terminal · Síndrome de hirsutismo-hiperplasia gingival congénita |
| it | Sindrome fibromatosi gengivale-ipertricosi | CGHT · Ipertricosi con o senza iperplasia gengivale · Ipertricosi terminale generalizzata congenita · Sindrome irsutismo-iperplasia gengivale congenita |
| nl | Gingivale fibromatose - hypertrichose-syndroom | CGHT · Congenitale gegeneraliseerde hypertrichosis terminalis · Hirsutisme - congenitale gingivale hyperplasie-syndroom · Hypertrichose met of zonder gingivale hyperplasie |
| pt | Síndrome de fibromatose gengival-hipertricose | Síndrome de hirsutismo-hiperplasia gengival congénita |
| pl | Zespół włókniakowatości dziąseł i hipertrichozy | CGHT · Hipertrichoza z lub bez hiperplazji dziąseł · Wrodzona uogólniona hipertrichoza graniczna · Zespół hirsutyzmu i wrodzonego przerostu dziąseł |
| cs | Syndrom zahrnující gingivální fibromatózu a hypertrichózu | CGHT · Vrozená generalizovaná hypertrichóza terminalis · Syndrom zahrnující hirsutismus a vrozenou gingivální hyperplázii · Hypertrichóza s nebo bez gingivální hyperplázie |
| uk | Поміняти порядок слів: Синдром фіброматозу ясен-гіпертрихозу | CGHT · Вроджений генералізований термінальний гіпертрихоз · Синдром гірсутизму - вродженої гіперплазії ясен · Гіпертрихоз з гіперплазією ясен або без неї |
| zh | 牙龈纤维瘤病-多毛综合征 | 多毛症伴或不伴牙龈增生 |
| tr | Dişeti fibromatozu-hipertrikoz sendromu | CGHT · Doğumsal jeneralize hipertrikoz terminalis · Hirsutizm-doğumsal dişeti hiperplazisi sendromu · Dişeti hiperplazisi olan veya olmayan hipertrikoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135400 | E | validated | |
| ICD-10 | L68.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007610 | E | validated | |
| UMLS | C4274889 | E | validated | |
| GARD | 2324 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCA5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:35 | ENSG00000154265 | 612503 | 17q24.3 | ATP binding cassette subfamily A member 5 | 24831815[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002230 | Generalized hirsutism | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0001007 | Hirsutism | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000280 | Coarse facial features | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002353 | EEG abnormality | |
| HP:0000212 | Gingival overgrowth | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001250 | Seizure | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2026
- This record as JSON: /data/d/2026.json