Humero-radio-ulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.



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

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000069 Abnormality of the ureter Very frequent (99-80%)
HP:0001048 Cavernous hemangioma Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001172 Abnormal thumb morphology Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003070 Elbow ankylosis Very frequent (99-80%)
HP:0009601 Aplasia/Hypoplasia of the thumb Very frequent (99-80%)
HP:0010935 Abnormality of the upper urinary tract Very frequent (99-80%)
HP:0100560 Upper limb asymmetry Very frequent (99-80%)


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