Müllerian duct anomalies-limb anomalies syndrome

Orpha code: 2491OMIM code: 146160

Definition

A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.

Disease data
Classification

Malformation syndrome

ORPHA code
2491
OMIM code
146160
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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