Vertebral, Cardiac, Renal and Limb Defects Syndrome 1
Autoszomális recesszív
This condition is caused by changes in both copies of HAAO, an enzyme in the pathway that makes NAD from the amino acid tryptophan. Too little NAD during embryonic development disrupts formation of several organs.
Tünetek és jelek
Malformed or fused vertebrae and ribs, heart defects and kidney anomalies are the main features, often with shortened limbs or other limb differences. Some children also have short stature or developmental delay. The combination can resemble VACTERL association.
Mit változtat a diagnózis
Management involves heart, kidney, spine and limb assessment with specialist and surgical care as needed, plus developmental follow-up. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
VCRL1
