Ellis-van Creveld syndrome information

Description: Ellis-van Creveld syndrome aka/or Mesoectodermal dysplasia aka/or Chondroectodermal dysplasia Definition "Chondrodysplasia of long bones affecting mainly the distal ends of extremities and resulting in short-limb dwarfism, hexadactyly of the fingers and less frequently the toes; ectodermal dysplasia with nail and hair abnormalities, and congenital heart defects. Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and Dandy-Walker syndrome (absence of cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). Some patients are retarded. The largest pedigree was observed in Old Order Amish in Lancaster County, Pennsylvania and some cases were reported in Australian Aborigines." may cause or feature Symptoms and Signs Cleft palate Genu valgum Micromelia Nail abnormality Pectus carinatum Polydactyly Short stature Thoracic deformity Congenital conditions Cleft lip Cleft palate Cryptorchism (maldescended or ectopic testis) Hypodontia Hypospadias Talipes Cardiac and vascular conditions Atrial septal defect may be associated with Dandy-Walker syndrome