spondylocostal dysostosis-anal and genitourinary malformations syndrome
Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0005039
reproductive system disorder
is_a
MONDO:0018234
dysostosis
is_a
Casamassima-Morton-Nance syndrome
exact