VCTERL

The cover of 'Rare Disease Series #22 Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL)'

What Is VCTERL?

Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL) is a rare genetic disorder characterized by congenital heart disease, abnormal vertebral morphology, renal abnormalities, and limb abnormalities.

Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL) is a rare genetic disorder characterized by congenital heart disease, abnormal vertebral morphology, renal abnormalities, and limb abnormalities.

The disease is derived from the defective WBP11 gene on chromosome 12, a gene related to encoding nuclear proteins.

PREVALENCE / ONSET

World map background with words saying "The number of patients worldwide is unknown."
Prevalence
VCTERL is one of the rarest diseases. The number of patients worldwide is unknown.

Onset
Symptoms of VCTERL usually appear in utero.

SYMPTOMS

Six major symptoms of VCTERL: congenital heart disease, abnormal vertebral morphology, Esophageal atresia, Renal abnormalities, Limb abnormalities, dysmorphic craniofacial features

DIAGNOSIS

To diagnose VCTERL, genetic testing such as whole exome sequencing and whole genome sequencing is necessary.

Since VCTERL is one of the rarest diseases, genetic testing is necessary to make a final diagnosis. For such diseases, whole exome sequencing (WES) and whole genome sequencing (WGS) could be valuable methods.

To learn more about Irene’s VCTERL diagnosis story, visit My Odyssey #9 - Irene's story diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL).

INHERITANCE PATTERN

A family tree showing an autosomal dominant inheritance pattern.

VCTERL is inherited in an autosomal dominant inheritance pattern. It also follows incomplete penetrance, meaning that some individuals with the causing mutation(pathogenic variant) present the symptoms known while others do not.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. Currently, there is not enough information for treatment methods for VCTERL. We will update this section if we find any related published articles.

Helpful communities for VCTERL

Currently, no specific support groups are available for VCTERL.
Visit the websites below to learn more about various support groups.

National Organization for Rare Disorders

EURORDIS