Craniosynostosis-intracranial calcifications syndrome
Craniosynostosis-intracranial calcifications syndrome
Definition
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 — per MONDO