Term Name: craniosynostosis-scoliosis syndrome
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 )

Relationships
is a type of: autosomal recessive disease vitamin metabolic disorder