Disorders with associated genital abnormalities

Abnormality	Frequent in:
Hypospadias/bifid scrotum	Aniridia-Wilms tumor association
	Deletion of 4p, 11q, 13q
	Bladder exstrophy sequence
	Fraser syndrome
	Fryn syndrome
	Smith-Lemli-Opitz syndrome
	Triploidy syndrome
Micropenis	Anencephaly sequence
	Carpenter syndrome
	CHARGE association
	Deletion of 9p, 18q
	4p duplication syndrome
	Noonan syndrome
	Prader-Willi syndrome
Cryptorchidism	Aarskog syndrome
	Carpenter syndrome
	Deletion of: 4p, 5p, 9p, 11q, 13q, 18q
	Duplication of 3q, 4p, 10q, 15q
	Distal arthrogryposis syndrome
	Cloacal exstrophy sequence
	Fraser syndrome
	Freeman-Sheldon syndrome
	Miller-Dieker syndrome
	Noonan syndrome
	Robinow syndrome
	Rubinstein-Taybi syndrome
	Smith-Lemli-Opitz syndrome
	Triploidy syndrome
	Trisomy 9 mosaic syndrome
	Trisomy 13
	Trisomy 18
	Weaver syndrome
Hypoplasia of labia majora	Deletion of 9p, 18q
	Prader-Willi syndrome
	Robinow syndrome
	Trisomy 18 syndrome

Disorders_with_genital_ambi.htm

Adapted from Jones, KL. Smith's recognizable patterns of human malformation, 4th ed, Saunders, Philadelphia 1998. p. 677.

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