spondyloepiphyseal dysplasia Nishimura type

Term ID

DOID:0112288

Synonyms

• SEDN

Definition

A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. https://pubmed.ncbi.nlm.nih.gov/30804514/

References

• MIM:618618

Ontology

Human Disease   ( DOID:0112288 )