| Term Name: | craniosynostosis-scoliosis syndrome |
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| Synonyms: | |
| Definition: | A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid. |
| Ontology: | Human Disease [DOID:0070691] ( DOID:0070691 ) |