malformative syndromes with ambiguous genitalia
Etiology
ablepharon-macrostomia
WT1 locus at 11p13
- WAGR syndrome (11p13 deletion syndrome)
- Denys-Drash syndrome (WT1 ZF mutations)
- Frasier Syndrome (WT1 mutations)
asplenia, CV anomalies, caudal deficiency
Beemer syndrome
deletion 11q
Fraser syndrome
Rutledge syndrome
SCARF syndrome
Short rib-polydactyly type 2 (Majewski syndrome)
Smith-Lemli-Opitz
trimethadone syndrome
VATER association
campomelic dysplasia (SOX9 mutations)
See also
intersex disorders