Vertebral, cardiac, renal, and limb defects syndrome 1- MedGen UID:
- 1621146
- •Concept ID:
- C4540004
- •
- Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017).
Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome
See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.