Ellis-Van Creveld syndrome

Ellis-Van Creveld syndrome Relevant markers:

Acromelia of fingersAortic valve stenosisAtrial septal defect (ASD)Bowed bonesHypoplastic thoracic cageMesomelia of forearmsMesomelia of legsMetaphyseal cupping of humerusNarrow thoraxNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPostaxial polydactyly of fingersRhizomelia/short femurRhizomelia/short humerusShort rib/sShort long bones

Parents markers:

Atrioventricular septal defect (AVSD)HeartIntrauterine growth retardation (IUGR/SGA/FGR)Polydactyly of foot/feetPolydactyly of hand/sScoliosisVentricular septal defect (VSD)

Incidence:

7/1000000 — -

Involved genes:
(gene — definition — chromosome)

Mutations of ECV1 and ECV2 genes — 4p16

Inheritance mode:

Other online databases:

OMIM

References:

2010	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2012	Gene	Case report	Read on PubMed
2013	Arch argent pediatr	prenatal diagnosis	Read on PubMed