Craniosynostosis, Boston type

Craniosynostosis, Boston type (also known as craniosynostosis type 2) is a rare genetic skeletal disorder characterized by the premature fusion of one or more cranial sutures, leading to abnormal skull shape. This condition is caused by a gain-of-function mutation in the MSX2 gene (homeobox gene) located on chromosome 5q35.2. The MSX2 gene plays a critical role in skull bone development, and mutations lead to enhanced osteoblast activity and premature suture closure. The condition was originally described in a large family from Boston, Massachusetts, spanning multiple generations. The primary body system affected is the skeletal system, particularly the bones of the skull. The pattern of craniosynostosis can be variable, even within the same family, and may involve the sagittal, coronal, metopic, or lambdoid sutures. Clinical features include an abnormally shaped skull (which varies depending on which sutures are fused), cloverleaf skull deformity in severe cases, short head (brachycephaly), tall head (turricephaly), and frontal bossing. Increased intracranial pressure may occur if multiple sutures are involved, potentially leading to headaches, visual problems, and developmental concerns if left untreated. Treatment is primarily surgical and involves cranial vault remodeling to release the fused sutures, restore normal skull shape, and relieve any increased intracranial pressure. The timing and type of surgery depend on the severity and pattern of suture involvement. Long-term follow-up with a multidisciplinary craniofacial team, including neurosurgeons, plastic surgeons, ophthalmologists, and geneticists, is recommended. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern with high penetrance but variable expressivity.

Common questions about Craniosynostosis, Boston type