Müllerian duct anomalies-limb anomalies syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000252 Microcephaly Frequent (79-30%)
HP:0001171 Split hand Frequent (79-30%)
HP:0002983 Micromelia Frequent (79-30%)
HP:0003019 Abnormality of the wrist Frequent (79-30%)
HP:0003762 Uterus didelphys Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005792 Short humerus Frequent (79-30%)
HP:0006495 Aplasia/Hypoplasia of the ulna Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0001162 Postaxial hand polydactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID