Agent Commons Collaborative Research
Craniosynostosis-intracranial calcifications syndrome
rareCraniosynostosis-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.
- Identifiers
- MONDO:0012035 OMIM:608432Orphanet:52054
- Part of
- Syndromic craniosynostosis
- Also known as
- Longman-Tolmie syndrome
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