loading...| Preferred Name |
familial caudal dysgenesis |
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| Synonyms |
caudal regression syndrome caudal dysgenesis familial type caudal dysgenesis syndrome sirenomelia Sdam SDAM sacral agenesis sacral defect with anterior meningocele Rudd-Klimek syndrome familial caudal dysgenesis caudal regression |
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| Definitions |
Familial caudal dysgenesis is 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010831 |
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| altLabel |
caudal regression syndrome caudal dysgenesis familial type caudal dysgenesis syndrome sirenomelia Sdam SDAM sacral agenesis sacral defect with anterior meningocele Rudd-Klimek syndrome familial caudal dysgenesis caudal regression |
|
| definition |
Familial caudal dysgenesis is 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. |
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| has_exact_synonym |
Rudd-Klimek syndrome familial caudal dysgenesis caudal regression |
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| has_related_synonym |
caudal regression syndrome caudal dysgenesis familial type caudal dysgenesis syndrome sirenomelia Sdam SDAM sacral agenesis sacral defect with anterior meningocele |
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| label |
familial caudal dysgenesis |
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| prefixIRI |
MONDO:0010831 |
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| prefLabel |
familial caudal dysgenesis |
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| textual definition |
Familial caudal dysgenesis is 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. |
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| subClassOf |