Craniosynostosis-intracranial calcifications syndrome

Orpha code: 52054OMIM code: 608432

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Longman-Tolmie syndrome
Zespół Longmana i Tolmiego
ORPHA code
52054
OMIM code
608432
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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