Autoszomális recesszív
Caused by biallelic loss-of-function changes in both copies of DDR2, which encodes a discoidin domain receptor tyrosine kinase.
Tünetek és jelek
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.
Mit változtat a diagnózis
Care is tailored to the features present. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Vizsgált gének
Más néven
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
