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://www.orphadata.org. Data version May 2024
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