Causes and risk factors
Craniosynostosis can be non syndromic or syndromic. Non syndromic is the one whose causes are unknown. Syndromic is caused by some genetic disorders. They are associated with other genetic diseases like Crouzon, Apert, Carpenter, Chotzen, and Pfeiffer syndrome.
Clinical presentation
Types of craniosyntosis presentations include sagittal synostosis [scaphocephaly], Coronal synostosis [anterior plagiocephaly], Bicoronal synostosis [brachycephaly], and Metopic synostosis [trigonocephaly] .In sagittal synostosis, baby’s head grows long and narrow. This type is the most common type of craniosynostosis. In coronal synostosis, baby’s forehead is flattened on the affected side. This may also raise the eye socket and cause a deviated nose and slanted skull. In Bicoronal synostosis, baby may have a flat, elevated forehead and brow. In Metopic synostosis, the early closure of the sutures gives the scalp a triangular appearance. Craniosyntosis is present along with problems like blindness, seizures, decreased intelligence, foot deformities etc. The symptoms of craniosynostosis depend on its type, which include abnormal shape of head, absence or an abnormal feeling of soft spot [fontanelle] on the skull of newborns, slow or no growth of the head as your baby grows, elevated and hard ridge along the affected sutures, increased intracranial pressure within the skull.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. Imaging studies such as X-rays of the skull, CT scan of the head, MRI scan, Ultrasound is useful for the diagnosis. Measurement of head width is done. If the doctor suspects an underlying hereditary syndrome, genetic testing may help identify the disease.
Treatment
Mild cases require no treatment. Supportive care is given such as use of specially moulded helmet to resize the skull bone. Surgery is done while the baby is still an infant, to make sure that there is enough space within the skull for the brain growth and to relieve the pressure in the brain. Surgery is also done to improve the appearance of the head.
