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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