Symbrachydactyly of hands and feet

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.



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

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0009800 Maternal diabetes Very frequent (99-80%)
HP:0100745 Abnormality of the humeroulnar joint Very frequent (99-80%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002997 Abnormality of the ulna Frequent (79-30%)
HP:0003063 Abnormality of the humerus Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb Frequent (79-30%)


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