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GTR Home > Conditions/Phenotypes > Gingival fibromatosis-hypertrichosis syndrome

Gingival fibromatosis-hypertrichosis syndrome

Synonyms
Extreme hirsutism with gingival fibromatosis; Gingival fibromatosis with hypertrichosis; HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA; Hereditary gingival fibromatosis with hypertrichosis; Hypertrichosis terminalis, generalized, with gingival hyperplasia; Hypertrichosis with Acromegaloid Facial Features
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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 present at birth but often appears at puberty (Anderson et al., 1969). For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (145701). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ABC13, DEL17q24, EST90625, HTC3, HTGH, ABCA5
    Summary: ATP binding cassette subfamily A member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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