Autozomálně recesivní
Caused by changes in both copies of MBTPS1, which encodes site-1 protease. The changes cause a skeletal dysplasia with raised levels of lysosomal enzymes in the blood.
Příznaky a projevy
Growth restriction and short stature with changes in the vertebrae and the ends of the long bones seen on X-ray, often with curvature of the spine. Raised levels of lysosomal enzymes in the blood have been reported. Only a few people have been described, so the full range of features is not yet known.
Co se diagnózou změní
Care involves growth and orthopaedic monitoring, with treatment of spinal curvature and joint problems as needed. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Analyzované geny
Známé také jako
SEDKF
