familial caudal dysgenesis
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0018639
caudal regression-sirenomelia spectrum
is_a
Rudd-Klimek syndrome
exact
SDAM
related
caudal dysgenesis familial type
related
caudal dysgenesis syndrome
related
caudal regression
exact
familial caudal dysgenesis
exact