Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2; Vcrl2

Description

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2; Vcrl2

  • Microcephaly
  • Delayed speech and language development
  • Patent ductus arteriosus
  • Syndactyly
  • Narrow chest
  • Talipes
  • Renal hypoplasia
  • Rhizomelia
  • Hypoplastic left heart
  • Restrictive deficit on pulmonary function testing

Incidence and onset information

Not enough data available about incidence and published cases.


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Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2; Vcrl2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
KYNU.

By Fulgent Genetics Fulgent Genetics in United States.

KYNU
Specificity
100 %
Genes
100 %

Alternate names

Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2; Vcrl2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete.



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