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Ellis-van Creveld syndrome information
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Location: http://www.diseasesdatabase.com/ddb29309.htm
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
Type: Reference Material
Author/Contact: Not available
Institution: Disease Database
Primary Subject/Category:
Language: English
Submitted by: admin
Hits: 957
Added: Thu Nov 30 2006