craniosynostosis-intracranial calcifications syndrome

Craniosynostosis-intracranial calcifications syndrome, also known as Longman-Tolmie syndrome and craniosynostosis, calcification of basal ganglia, and facial dysmorphism, is a form of syndromic craniosynostosis that affects skull development and intracranial structures. It is characterized by the premature fusion of skull sutures (pancraniosynostosis), a head circumference below the mid-parental expectation, and distinct facial features including prominent supraorbital ridges, mild proptosis, and maxillary hypoplasia. Intracranial imaging often reveals calcification of the basal ganglia. The condition is extremely rare, affecting fewer than 1 in 1 million people.

Individuals with this syndrome typically present with abnormal skull shape due to the early fusion of cranial sutures and accompanying facial dysmorphism. The small head size relative to parental expectations and the presence of intracranial calcifications are notable features. , despite these craniofacial differences, most affected individuals experience a favorable neurological outcome with normal intelligence. Not all individuals experience every feature, and severity varies considerably.

The precise genetic basis of craniosynostosis-intracranial calcifications syndrome remains under investigation. However, the condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two altered copies of an as yet unidentified gene to develop the syndrome. Families with a history of the condition may benefit from genetic counseling to understand recurrence risks and implications for family planning.

Currently, management focuses on supportive care and tailored symptom management for craniosynostosis-intracranial calcifications syndrome. Treatment typically involves a multidisciplinary team that may include neurosurgeons, craniofacial specialists, and other healthcare professionals to address the cranial and facial abnormalities. Genetic counseling is also recommended to help families navigate care options and future family planning. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their individual situation.

The outlook for individuals with craniosynostosis-intracranial calcifications syndrome is generally positive, with most individuals experiencing a favorable neurological outcome and normal intelligence. While the syndrome is associated with noticeable cranial and facial differences, the overall course is highly variable and many individuals maintain stability into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with craniofacial specialists and genetic counselors for support and guidance.