spondyloepiphyseal dysplasia Nishimura type

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

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.

Signs and symptoms

• Delayed epiphyseal ossification
• Short foot
• Delayed proximal femoral epiphyseal ossification
• Brachydactyly
• Short nose
• Short femoral neck
• Cone-shaped epiphyses of the phalanges of the hand
• Disproportionate short-limb short stature
• Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
• Phalangeal cone-shaped epiphyses

Also known as: SEDN