Mullerian duct anomalies-limb anomalies syndrome

MedGen UID:: 327078
•Concept ID:: C1840335
•: Disease or Syndrome

Synonyms:	Hypomelia mullerian duct anomalies; HYPOMELIA WITH MULLERIAN DUCT ANOMALIES; Limb uterus syndrome; Severe upper limb hypoplasia and Mullerian duct anomalies

Monarch Initiative:	MONDO:0007795
OMIM®:	146160
Orphanet:	ORPHA2491

Definition

Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. [from ORDO]

Clinical features

From HPO

Uterus didelphys

MedGen UID:: 82740
•Concept ID:: C0266393
•: Congenital Abnormality

A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.

See: Feature record | Search on this feature

Longitudinal vaginal septum

MedGen UID:: 331104
•Concept ID:: C1841680
•: Finding

The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.

See: Feature record | Search on this feature

Postaxial hand polydactyly

MedGen UID:: 609221
•Concept ID:: C0431904
•: Congenital Abnormality

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

See: Feature record | Search on this feature

Split hand

MedGen UID:: 397570
•Concept ID:: C2699510
•: Congenital Abnormality

A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.

See: Feature record | Search on this feature

Show all Hide all