spondyloepiphyseal dysplasia Kondo-Fu type

info · Genetic

A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.

Signs and symptoms

Decreased body weight
Brachydactyly
Short stature
Inguinal hernia
Delayed gross motor development
Short femoral neck
Elevated circulating beta-glucuronidase activity
Cataract
Kyphosis
Small for gestational age

Also known as: SED with elevated blood lysosomal enzymes; SEDKF