Congenital vertebral-cardiac-renal anomalies syndrome

Orpha code: 521438OMIM code: 617661

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.

Disease data
Classification

Malformation syndrome

Synonyms
Congenital NAD deficiency disorder
Wrodzony niedobór NAD
ORPHA code
521438
OMIM code
617661
ICD10 code
-
ICD11 code
-

No additional description.

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