Ellis Van Creveld syndrome

Orpha code: 289OMIM code: 225500

Definition

A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.

Disease data
Classification

Malformation syndrome

Synonyms
Chondroectodermal dysplasia
Dysplazja chondroektodermalna
Dysplazja mezodermalna
Mesodermic dysplasia
ORPHA code
289
OMIM code
225500
ICD10 code
Q77.6
ICD11 code
LD27.0Y

No additional description.

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