Gingival fibromatosis-hypertrichosis syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS Hirsutism-congenital gingival hyperplasia syndrome MICRODELETION 17q24.2-q24.3 SYNDROME CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME |
| Number of Symptoms | 22 |
| OrphanetNr: | 2026 |
| OMIM Id: |
135400
|
| ICD-10: |
L68.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Hypertrichosis -Rare genetic disease -Rare skin disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000664) | Synophrys | Occasional [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0000574) | Thick eyebrow | Occasional [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0000414) | Bulbous nose | rare [HPO:skoehler] | 63 / 7739 | |||
|
|
(HPO:0000169) | Gingival fibromatosis | 14 / 7739 | ||||
|
|
(HPO:0009928) | Thick nasal alae | rare [HPO:skoehler] | 21 / 7739 | |||
|
|
(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0000280) | Coarse facial features | Frequent [Orphanet] | 189 / 7739 | |||
|
|
(HPO:0000494) | Downslanted palpebral fissures | rare [HPO:skoehler] | 328 / 7739 | |||
|
|
(HPO:0100037) | Abnormality of the scalp hair | Very frequent [Orphanet] | 6 / 7739 | |||
|
|
(HPO:0000286) | Epicanthus | rare [HPO:skoehler] | 371 / 7739 | |||
|
|
(HPO:0100649) | Neoplasm of the oral cavity | Frequent [Orphanet] | 20 / 7739 | |||
|
|
(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0004540) | Congenital, generalized hypertrichosis | 11 / 7739 | ||||
|
|
(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
|
|
(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be ... |
| Clinical Description OMIM |
Laurence (1857) described a 'bearded and hairy female' who was being exhibited at the Regent-Gallery, a 23-year-old Mexican woman who was 'clothed with hairs' over her entire body except for the palms and the soles. She was 4 ... |
| Molecular genetics OMIM |
Sun et al. (2009) performed copy number variation (CNV) analysis in 1 affected individual from each of 3 Han Chinese families with congenital generalized hypertrichosis without gingival hyperplasia. They detected genomic microdeletions on chromosome 17q24.2-q24.3 of different sizes ... |