Fibromatosis, gingival, with distinctive facies

Preferred Label : Fibromatosis, gingival, with distinctive facies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Goldblatt and Singer (1992) described a brother and sister with gingival fibromatosis associated with craniofacial dysmorphism: relative macrocephaly, bushy eyebrows with synophrys, hypertelorism and downslanting palpebral fissures, flattened nasal bridge and hypoplastic nares, cupid-bow mouth, and highly arched palate. Autosomal recessive inheritance has been suggested for isolated gingival fibromatosis (Jorgenson and Cocker, 1974) and for a disorder with associated cherubism and other abnormalities (266270). *FIELD* RF 1. Goldblatt, J.; Singer, S. L.: Autosomal recessive gingival fibromatosis with distinctive facies. Clin. Genet. 42: 306-308, 1992. 2. Jorgenson, R. J.; Cocker, M. E.: Variation in the inheritance and expression of gingival fibromatosis. J. Periodont. 45: 472-477, 1974. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 228560;

Details

Origin ID

228560;

UMLS CUI

C1856761;

Currated CISMeF NLP mapping
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
- fibromatosis, gingival, with distinctive facies [MeSH concept]
- fibromatosis, gingival, with distinctive facies [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Flattened nasal bridge [HPO term]
- Gingival fibromatosis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Histological abnormality of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nostrils [HPO term]
- Irregular dentition [HPO term]
- Macrocephaly [HPO term]
- Persistence of primary teeth [HPO term]
- Prominent lips [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
- fibromatosis, gingival, with distinctive facies [MeSH Supplementary Concept]
- fibromatosis, gingival, with distinctive facies [MeSH concept]

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