Autozomálně recesivní
Caused by biallelic loss-of-function changes in both copies of DDR2, which encodes a discoidin domain receptor tyrosine kinase.
Příznaky a projevy
Disproportionate short stature with short limbs and short hands. Calcification of cartilage and other tissues develops progressively, with vertebral and bone-end (epiphyseal) abnormalities. Distinctive facial features are reported, and hydrocephalus and intracranial bleeding have also been described.
Co se diagnózou změní
Care is tailored to the features present. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Analyzované geny
Známé také jako
Smed short limb-abnormal calcification type; SMED short limb-hand type; SMED type 2; spondyloepimetaphyseal dysplasia - short limb - abnormal calcification; spondylometaepiphyseal dysplasia short limb-abnormal calcification type; spondylometaepiphyseal dysplasia short limb-hand type
