Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Familial caudal dysgenesis
Synonyms

Rudd-Klimek syndrome
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_1768
alternative_term

Rudd-Klimek syndrome
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1768
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal dominant
hasDbXref

MeSH:C535879

ICD-10:Q87.8

UMLS:C2931053
label

Familial caudal dysgenesis
notation

ORPHA:1768
part_of

http://www.orpha.net/ORDO/Orphanet_269564

http://www.orpha.net/ORDO/Orphanet_269531

http://www.orpha.net/ORDO/Orphanet_444941
prefixIRI

ORDO:Orphanet_1768
prefLabel

Familial caudal dysgenesis
present_in

Worldwide AND has_cases/families_value : 4.0 (Case)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000
treeView

http://www.orpha.net/ORDO/Orphanet_269564

http://www.orpha.net/ORDO/Orphanet_269531

http://www.orpha.net/ORDO/Orphanet_444941
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493
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