/gingival fibromatosis-hypertrichosis syndrome

gingival fibromatosis-hypertrichosis syndrome

Rare Disease

MONDO:0007610

Also Known As

CGHTcongenital generalised hypertrichosis terminaliscongenital generalized hypertrichosis terminalishirsutism-congenital gingival hyperplasia syndromehypertrichosis with or without gingival hyperplasiahypertrichosis, congenital generalized, with gingival hyperplasiaHTC3chromosome 17Q24.2-q24.3 Duplication syndromechromosome 17Q24.2-q24.3 deletion syndromeextreme hirsutism with gingival fibromatosisfibromatosis, gingival, with hypertrichosisgingival fibromatosis with hypertrichosishereditary gingival fibromatosis with hypertrichosishypertrichosis terminalis, generalized, with gingival hyperplasiahypertrichosis terminalis, generalized, with or without gingival hyperplasiahypertrichosis, congenital generalized, with or without gingival hyperplasiamicrodeletion 17Q24.2-q24.3 syndromemicroduplication 17Q24.2-q24.3 syndrome

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.