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Definition

An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.

Acronym

EVPLS

Synonyms

Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Keywords

Dwarfism