Craniosynostosis-intracranial calcifications syndrome

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Craniosynostosis-intracranial calcifications syndrome

Synonyms: Longman-Tolmie syndrome

Craniosynostosis-intracranial calcifications syndrome 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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