Familial caudal dysgenesis
Synonyms: Rudd-Klimek syndrome
A rare genetic developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis ranging from a single umbilical artery or imperforate anus to full sirenomelia in several members of the same family. Phenotype includes lumbosacral agenesis anal atresia or ectopia genitourinary abnormalities components of VATER or VACTERL association and facial dysmorphism (flat facies abnormal ears bilateral epicanthic folds depressed nasal bridge micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect hypoplasia of pulmonary artery) and skeletal (kyphosis hemipelvis) anomalies.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Familial caudal dysgenesis?
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