Table 1.

Syndromes presenting with Generalized Hypertrichosis and related genetic mutations. Legend: CGH: congenital generalized hypertrichosis

	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