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Disorders with associated genital abnormalities

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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