Table 1 Syndromes presenting with Generalized Hypertrichosis and related genetic mutations. Legend: CGH: congenital generalized hypertrichosis
From: Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Disease | Genes involved (location) | |
|---|---|---|
Congenital generalized hypertrichosis as most prominent feature | Congenital hypertrichosis lanuginosa | Inverse mutation on the 8q chromosome |
Congenital hypertrichosis universalis | Autosomal dominant mutation in Xq24-q27.1 | |
Congenital generalized hypertrichosis associated with other anomalies | CGH with gingival fibromatosis | Unknown |
CGH with amaurosis congenita cone-rod type | Unknown | |
Cataract, hypertrichosis, and mental retardation (CAHMR) syndrome | Unknown | |
Pigmentary retinopathy | Unknown | |
Zimmermann-Laband syndrome | Probable breakpoint location in 3p14.3 | |
Hypertrichosis with coarse face, obesity, short stature and brachydactily | Unknown | |
Congenital hypertrichosis as a component feature of complex syndromes | Cornelia de Lange syndrome | NIPBL (5p13.2); SMC1A (Xp11.22-p11.21); SMC3 (10q25); RAD21 (8q24.11); HDAC8 (Xq13) |
Coffin-Siris syndrome | BAF complex genes (19p13.2; 22q11.23; 9p24.3; 17q21.2; 1p36.11; 6q25.3) | |
Barber-Say syndrome | KMT2A (11q23) | |
Acromegaloid facial appearance with hypertrichosis | PGM1 (1p22.1); GLO1 (6p21.3-p21.1), IGHG3 (14q32.33), and HP (16q22.2) [low positive LOD scores for linkage] | |
Wiedemann-Steiner syndrome | KMT2A (11q23) | |
Osteocondrodysplasia with hypertrichosis or Cantù Syndrome | ABCC9; KCNJ8 (12p12.1) | |
Berardinelli-Seip congenital lipodystrophy | BSCL (11q13) | |
Donohue syndrome | INSR (19p13.2) | |
Torg-Winchester syndrome and nodulosis arthropathy-osteolysis | MMP2 (16q13-q21) | |
Rubinstein-Taybi syndrome | CREBBP (16p13.3); EP300 (22q13.2) | |
Schinzel-Giedion syndrome | SETBP1 (18q21.1) | |
Gorlin-Chaudry-Moss syndrome | Unknown | |
Disorders with congenital generalized hypertrichosis as an uncommon feature | Hemi-maxillo facial dysplasia | Unknown |
Craniofacial dysostosis | Unknown | |
Hypomelanosis of Ito | Probable breakpoint location in Xp11 |