Autozomálně recesivní
Caused by changes in both copies of LRP4, which helps regulate WNT signalling during limb development. Loss of LRP4 function disrupts how fingers, toes and kidneys form.
Příznaky a projevy
Syndactyly of the hands and feet in which fingers or toes are joined, often including the bones, sometimes with fewer digits. The forearm bones are frequently short or fused. Kidney differences, such as underdeveloped kidneys, are common, and some people have distinctive facial features.
Co se diagnózou změní
Care is supportive, with assessment of the hands and kidneys as needed. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
Cenani syndactyly; Cenani-Lenz syndactyly; Cenani-Lenz type syndactyly; CLSS; syndactyly type 7
