Vertebral, Cardiac, Renal and Limb Defects Syndrome 3
Autozomálně recesivní
Caused by changes in both copies of NADSYN1, which makes the enzyme for the final step in making NAD, a molecule essential for cell metabolism. Low NAD during embryonic development disrupts organ formation.
Příznaky a projevy
Birth differences of the vertebrae, heart defects, kidney malformations and limb differences, often in combination. Short stature is common. Severity varies, and some affected pregnancies are lost.
Co se diagnózou změní
Care depends on the features present, with cardiac, kidney, orthopaedic and surgical management. Surveillance includes growth, development, hearing, eye and thyroid checks, with blood pressure and kidney function monitored where kidneys are affected. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.
Analyzované geny
Známé také jako
Congenital Nad Deficiency Disorder 3; VCRL3
