Craniosynostosis-intracranial calcifications syndrome

Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.

Also known as: Longman-Tolmie syndrome, craniosynostosis, calcification of basal ganglia, and facial dysmorphism

1 clinical trial for this condition and its sub-types, 0 tagged with Craniosynostosis-intracranial calcifications syndrome itself.