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33 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Ellis-van Creveld Syndrome Synonym: Chondroectodermal Dysplasia (Ellis-van Creveld) Jorge Diogo ...
  2. Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. ... is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes ( EVC and EVC2 ). These genes are positioned ...
  3. ... published></health-condition-summary><health-condition-summary ><name >Ellis-van Creveld syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. ... Senior-Løken syndrome (OMIM 616307 ) WDR35 Chondroectodermal dysplasia ( Ellis-van Creveld syndrome ) 1 SRPS type 5 1 SRPS unclassified 1 ... ciliopathies, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Ellis-van Creveld syndrome , and the short-rib polydactyly syndromes resemble CED ...
  5. ... 8712491 ] 612. Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. Eur J Orthod. 1996 Aug; ... FN, Yassin OM, Sasa IS. Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies. ...
  6. ... Overlapping Clinical Features Hydrometrocolpos and postaxial polydactyly (PAP) Ellis-van Creveld syndrome (EVC). Cardinal phenotypic features of EVC comprise chondrodysplasia ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome</url><title >Ellis-van Creveld syndrome</title><other_ ...
  8. ... DYNC2LI1 EVC EVC2 GLI PRKACA PRKACB SMO WDR35 Ellis-van Creveld syndrome AR AD 1 Short stature Brachydactyly Nasal shape ... inheritance; PTH = parathyroid hormone; TRPS = trichorhinophalangeal syndrome 1. Ellis-van Creveld (EVC) syndrome caused by pathogenic variants in DYNC2H1 , DYNC2LI1 , EVC , ...
  9. ... Incontinentia pigmenti achromians Cleidocranial dysostosis Ehlers-Danlos syndrome Ellis-van Creveld syndrome
  10. Causes may include: Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome ...
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