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GTR Home > Conditions/Phenotypes > Vertebral, cardiac, renal, and limb defects syndrome 1

Vertebral, cardiac, renal, and limb defects syndrome 1

Synonyms
3-HYDROXYANTHRANILIC ACIDEMIA; CONGENITAL NAD DEFICIENCY DISORDER 1

Summary

Excerpted from the GeneReview: Congenital NAD Deficiency Disorder
Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all surviving individuals have short stature, many with disproportionately shortened limbs. Vertebral anomalies, including hemivertebrae and vertebral fusion, occur frequently, often with rib anomalies. Renal anomalies may be severe, including dysplasia/hypoplasia and renal agenesis. Developmental delay / intellectual disability has been reported in more than half of affected individuals, although some affected individuals have had normal development, and some individuals succumbed to their congenital anomalies before developmental assessment could be performed. Other less common features may include cleft palate, eye anomalies, sensorineural hearing loss, tracheoesophageal fistula, polysplenia, anteriorly displaced anus, tethered spinal cord, cystic hygroma, epilepsy, hypothyroidism, and hypoparathyroidism.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Paul Mark
Sally Dunwoodie
view full author information

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3-HAO, HAO, VCRL1, h3HAO, HAAO
    Summary: 3-hydroxyanthranilate 3,4-dioxygenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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