Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3
Autozomálně recesivní
Caused by changes in both copies of EXOC6B, part of the exocyst complex that delivers proteins to the cell surface. Only a small number of families have been reported.
Příznaky a projevy
Short stature with changes in the vertebrae and the growing ends of long bones. Marked joint laxity with dislocations, particularly of the knees, hips and elbows, is typical. Curvature of the spine and developmental delay have also been reported.
Co se diagnózou změní
Orthopaedic and physiotherapy care to manage joint dislocations and spine curvature, with growth monitoring. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
SEMDJL3; spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type
