WAGR syndrome

Orpha code: 893OMIM code: 612469

Definicja

A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(11)(p13)
Del(11)(p13)
Delecja 11p13
Monosomia 11p13
Zespół guza Wilmsa, aniridii, wad moczowo-płciowych i niepełnosprawności intelektualnej
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
Kod ORPHA
893
Kod OMIM
612469
Kod ICD10
C64
Kod ICD11
LD2A.Y

No additional description.

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