craniosynostosis-intracranial calcifications syndrome
Findings
No curated finding names craniosynostosis-intracranial calcifications syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012035), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: craniosynostosis-intracranial calcifications syndrome
- Also called
- Longman-Tolmie syndrome