Cataract-intellectual disability-anal atresia-urinary defects syndrome

Orpha code: 1381OMIM code:

Definition

Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
Karandikar-Maria-Kamble syndrome
Zespół Karandikara. Maria i Kamble
ORPHA code
1381
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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