craniosynostosis-scoliosis syndrome

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_mater

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.

Signs and symptoms

• Milia
• Iron deficiency anemia
• Short stature
• Seizure
• Glue ear
• Small hypothenar eminence
• Systolic heart murmur
• Caesarean section
• Anal fistula
• Nystagmus