Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.



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

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002997 Abnormality of the ulna Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003063 Abnormality of the humerus Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0006501 Aplasia/Hypoplasia of the radius Very frequent (99-80%)
HP:0009832 Abnormal distal phalanx morphology of finger 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: 1

Gene Symbol Gene Name Entrez Gene ID
PITX1 paired like homeodomain 1 5307