Autoszomális recesszív
Caused by changes in both copies of SLC10A7, a membrane transporter needed for normal glycosylation (the addition of sugar chains to proteins) and calcium handling. Each parent usually carries one changed copy.
Tünetek és jelek
Short stature, often noticed before birth, with skeletal changes such as scoliosis and dislocations of large joints. Tooth enamel is thin or poorly formed (amelogenesis imperfecta). Facial differences and developmental delay can also occur.
Mit változtat a diagnózis
Orthopaedic monitoring of the spine and joints, with surgery on the spine when needed, and specialist dental care. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
Más néven
SSASKS
