WAGR syndrome

Orpha code: 893OMIM code: 612469

Definition

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
Classification

Malformation syndrome

Synonyms
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
ORPHA code
893
OMIM code
612469
ICD10 code
C64
ICD11 code
LD2A.Y

No additional description.

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