Ellis-Van Creveld syndrome

Term ID

DOID:12714

Synonyms

• Chondroectodermal dysplasia
• mesoectodermal dysplasia

Definition

A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (2)

References

• GARD:1301
• ICD10CM:Q77.6
• ICD9CM:756.55
• MESH:D004613
• MIM:225500
• NCI:C84684
• SNOMEDCT_US_2023_03_01:62501005
• UMLS_CUI:C0013903

(all 8)

Ontology

Human Disease   ( DOID:12714 )