Postaxial polydactyly-dental and vertebral anomalies syndrome

Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.



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

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000474 Thickened nuchal skin fold Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001572 Macrodontia Very frequent (99-80%)
HP:0002937 Hemivertebrae Very frequent (99-80%)
HP:0002948 Vertebral fusion Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0008479 Hypoplastic vertebral bodies Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000668 Hypodontia Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000632 Lacrimation abnormality Occasional (29-5%)
HP:0001357 Plagiocephaly Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002999 Patellar dislocation Occasional (29-5%)
HP:0003042 Elbow dislocation Occasional (29-5%)
HP:0005988 Congenital muscular torticollis Occasional (29-5%)
HP:0010935 Abnormality of the upper urinary tract Occasional (29-5%)
HP:0100672 Vaginal hernia 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