Polydactyly, postaxial, with dental and vertebral anomalies

Preferred Label : Polydactyly, postaxial, with dental and vertebral anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In 3 patients, Rogers et al. (1977) observed postaxial polydactyly and other abnormalities of the hands and feet (brachydactyly, broad toes, syndactyly of toes 2 and 3), hypoplasia and fusion of vertebral bodies, and dental anomalies (fused teeth, macrodontia, hypodontia, short roots, etc.). Two of the patients were sisters born to normal unrelated parents; the third was a male offspring of normal but consanguineous parents. The third patient had congenital heart malformations. The combination of postaxial polydactyly and cardiac malformation should, perhaps, bring to mind this syndrome, in addition to the Ellis-van Creveld syndrome (225500) and the Kaufman syndrome (236700). *FIELD* RF 1. Rogers, J. G.; Levin, L. S.; Dorst, J. P.; Temtamy, S. A.: A postaxial polydactyly-dental-vertebral syndrome. J. Pediat. 90: 230-235, 1977. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 263540;

Details

Origin ID

263540;

UMLS CUI

C1849732;

Currated CISMeF NLP mapping
- Postaxial polydactyly, dental, vertebral anomalies syndrome (disorder) [SNOMED CT concept]
- Postaxial polydactyly-dental and vertebral anomalies syndrome [ORDO Disease]
- polydactyly, postaxial, with dental and vertebral anomalies [MeSH concept]
- polydactyly, postaxial, with dental and vertebral anomalies [MeSH Supplementary Concept]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Brachydactyly [HPO term]
- Broad toe [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Dens in dente [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Hemivertebrae [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Kyphoscoliosis [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrodontia [HPO term]
- Mandibular prognathia [HPO term]
- Narrow chest [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short middle phalanx of finger [HPO term]
- Short pointed phalanges [HPO term]
- Spinal canal stenosis [HPO term]
- Tarsal synostosis [HPO term]
- Toe syndactyly [HPO term]
- Underfolded helix [HPO term]
- Vertebral fusion [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Postaxial polydactyly-dental and vertebral anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Postaxial polydactyly-dental and vertebral anomalies syndrome [ORDO Disease]
- polydactyly, postaxial, with dental and vertebral anomalies [MeSH Supplementary Concept]
- polydactyly, postaxial, with dental and vertebral anomalies [MeSH concept]

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