Ulna metaphyseal dysplasia syndrome

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.



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

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002997 Abnormality of the ulna Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0006501 Aplasia/Hypoplasia of the radius Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0002991 Abnormality of fibula morphology Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0000164 Abnormality of the dentition Occasional (29-5%)
HP:0000457 Depressed nasal ridge Occasional (29-5%)
HP:0000691 Microdontia Occasional (29-5%)
HP:0000787 Nephrolithiasis Occasional (29-5%)
HP:0001608 Abnormality of the voice Occasional (29-5%)
HP:0006482 Abnormality of dental morphology 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