Genetic advances in craniosynostosis

 Craniosynostosis (CS), which is a clinically and genetically heterogeneous congenital anomaly, refers to the premature ossification of one or more skull sutures, affecting approximately 1 in 2,500 live births. In majority cases, it occurs as an isolated congenital anomaly known as nonsyndromic craniosynostosis (NCS) whose genetic and environmental causes are still unknown. 

Recent data has suggested that at least some of the midline NCS cases can be explained by two loci inheritance.

Approximately 25%-30% of patients of craniosynostosis present a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signalling pathways. 

As per etiological classification, CS can be defined as primary, when genetic causes act alone or in combination with environmental factors; or secondary when disorders affect the developing suture. 

Conditions that are associated with secondary CS include 

• Hyperthyroidism
• Hypercalcemia
• Hypophosphatasia
• Sickle cell disease
• Thalassemia
• Vitamin D deficiency
• Renal osteodystrophy and 
• Hurler syndrome.

Finally, secondary CS can also be the result of microcephaly, shunted hydrocephalus, etc, all of which restrict the growth across the open suture.

A senior neurosurgeon of international repute with excellent management skills and one of the Best Neurosurgeons in Kolkata, Dr. Kaushik Sil has over 16 years of experience in treating complex Brain and Spine problems like brain tumours, spinal disc prolapse, brain stroke, subdural hematoma, spinal deformity with a special interest in childhood neurosurgical problems like hydrocephalus and spinal birth defects. His simple guidance and high success in treatment rates is immaculate.