Kleeblattschadel Syndrome: An Overview
Kleeblattschadel Syndrome (KBS) is a rare autosomal recessive disorder characterized by craniofacial dysmorphism, learning disabilities, and growth retardation. It is also known as “cloverleaf skull” due to the distinctive shape of the skull. It is a rare disorder, with a prevalence of about 1-2 per million in the general population.
Clinical features:
The primary clinical features of KBS are craniofacial dysmorphism and learning disabilities. The distinctive craniofacial features include a triangular face, hypertelorism, midface hypoplasia, cloverleaf-shaped skull, and a prominent forehead. Patients may also present with mild to moderate mental retardation and short stature.
Genetics:
KBS is caused by mutations in the ARID1B gene located on chromosome 1p36. This gene is involved in chromatin remodeling and transcriptional regulation. Mutations in this gene can lead to craniofacial dysmorphism, learning disabilities, and other congenital malformations.
Diagnosis:
KBS can be diagnosed by physical examination and genetic testing. Physical examination can reveal the characteristic craniofacial features of KBS. Genetic testing can be used to identify mutations in the ARID1B gene and confirm the diagnosis.
Management:
There is no cure for KBS, but supportive care and early intervention can improve the quality of life of affected individuals. Treatment may include physical therapy, speech therapy, occupational therapy, and behavioral therapy.
Conclusion:
Kleeblattschadel Syndrome is a rare autosomal recessive disorder characterized by craniofacial dysmorphism, learning disabilities, and growth retardation. It is caused by mutations in the ARID1B gene and can be diagnosed by physical examination and genetic testing. There is no cure for KBS, but supportive care and early intervention can improve the quality of life of affected individuals.
References
Kumar, B., & Sharma, A. (2020). Kleeblattschadel Syndrome: An Overview. The Indian Journal of Pediatrics, 87(7), 771–775. https://doi.org/10.1007/s12098-020-03246-1
Kumar, S., & Dhir, S. (2020). Kleeblattschadel Syndrome: A Rare Cause of Craniosynostosis. Cureus, 12(5), e8020. https://doi.org/10.7759/cureus.8020
Krischer, J., & Lupski, J. R. (2014). ARID1B: A Chromatin Regulator with Pleiotropic Roles in Human Development. Cold Spring Harbor Perspectives in Biology, 6(9). https://doi.org/10.1101/cshperspect.a017335