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Gingival fibromatosis-hypertrichosis syndrome(HTC3)

MedGen UID:
342675
Concept ID:
C1851120
Disease or Syndrome
Synonyms: Extreme hirsutism with gingival fibromatosis; Gingival fibromatosis with hypertrichosis; Hereditary gingival fibromatosis with hypertrichosis; Hypertrichosis terminalis, generalized, with gingival hyperplasia; Hypertrichosis with Acromegaloid Facial Features; HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ABCA5 (17q24.3)
 
Monarch Initiative: MONDO:0007610
OMIM®: 135400
Orphanet: ORPHA2026

Definition

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]

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
The presence of fibrosis of the gingiva.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Thick nasal alae
MedGen UID:
335032
Concept ID:
C1844809
Finding
Increase in bulk of the ala nasi.
Wide nasal base
MedGen UID:
341506
Concept ID:
C1849667
Finding
Increased distance between the attachments of the alae nasi to the face.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Congenital, generalized hypertrichosis
MedGen UID:
1807304
Concept ID:
C5574955
Disease or Syndrome
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGingival fibromatosis-hypertrichosis syndrome
Follow this link to review classifications for Gingival fibromatosis-hypertrichosis syndrome in Orphanet.

Recent clinical studies

Etiology

Lacombe D, Bioulac-Sage P, Sibout M, Daussac E, Lesure F, Manchart JP, Battin J
Genet Couns 1994;5(3):251-6. PMID: 7811425

Diagnosis

Chacon-Camacho OF, Vázquez J, Zenteno JC
Am J Med Genet A 2011 Jul;155A(7):1716-20. Epub 2011 May 27 doi: 10.1002/ajmg.a.34030. PMID: 21626675
Tay YK, Bellus G, Weston W
Pediatr Dermatol 2001 Nov-Dec;18(6):534-6. doi: 10.1046/j.1525-1470.2001.1862006.x. PMID: 11841646

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