Medicines for Craniosynostosis

What it is

Craniosynostosis is a condition, usually present from birth, in which one or more of the joints (called sutures) between the bones of a baby’s skull fuse together too early — before the brain has finished growing. Normally, a baby’s skull bones are separated by these flexible joints, which allow the skull to grow as the brain grows during the early years, before the joints gradually fuse. In craniosynostosis, one or more of these joints closes prematurely, which can affect the shape of the head (as growth is restricted across the fused joint and the head grows differently in other directions) and, in some cases, can affect the growing brain. The main and most obvious feature is an abnormal head shape, which varies depending on which joint (or joints) is affected — for example, a long and narrow head, a flattened or asymmetrical shape, or other characteristic shapes; there may also be a ridge that can be felt along the affected joint. Craniosynostosis can occur on its own (isolated, or non-syndromic, which is the most common form and usually affects a single joint), or as part of a wider genetic syndrome (syndromic craniosynostosis, which is rarer and may involve several joints and other features). It is important to distinguish craniosynostosis from the much more common and harmless flattening of a baby’s head from lying in one position (positional plagiocephaly), which is not due to fused joints and is managed differently. Craniosynostosis is assessed by specialist teams (craniofacial teams), who confirm the diagnosis (with examination and imaging), assess whether the brain’s growth or other functions could be affected, and plan management. Treatment depends on the type and severity, and, particularly where there is a risk to the brain’s growth or significant effects on head shape, often involves surgery to correct the fused joint and reshape the skull, allowing room for the brain to grow and improving the head shape; the timing and type of surgery are planned by the specialist team. With appropriate assessment and treatment, outcomes are often good. The key messages are that craniosynostosis is the early fusion of skull joints affecting head shape and growth, that it should be distinguished from common positional head flattening, and that specialist assessment, and surgery in many cases, guide management.

How it is treated

Craniosynostosis is assessed and managed by specialist craniofacial teams, who confirm the diagnosis, assess any effect on the brain and other functions, and plan treatment — which often involves surgery, particularly where there is a risk to the brain’s growth or significant effects on head shape. If craniosynostosis is suspected — for example an abnormal head shape, a ridge along a skull joint, or a small or unusually shaped head — assessment is arranged, and it is important to distinguish it from the common, harmless positional flattening of a baby’s head (which does not need surgery and is managed differently). Assessment by a specialist team involves examination and imaging (such as scans) to confirm which joint(s) are affected and to assess the skull, the brain’s growth, and whether there are any effects (such as raised pressure within the skull); a check for any features of a wider syndrome is also made, particularly if several joints are involved or there are other features. Management depends on the type and severity. For many cases, particularly where a joint has fused early and there is a risk to the brain’s room to grow, or significant effects on head shape, surgery is the main treatment: this involves an operation (or operations) to correct the fused joint and reshape the skull, creating room for the brain to grow normally and improving the head shape; the timing (often in infancy or early childhood) and the specific type of surgery depend on the situation and are planned by the specialist team. Some milder cases, or particular situations, may be monitored, and management is individualised. For syndromic craniosynostosis (part of a wider genetic condition), care is more complex and multidisciplinary, addressing the other features and needs as well, with ongoing specialist input. After treatment, follow-up monitors the head shape and growth and the child’s development. Because early assessment allows the diagnosis to be confirmed, any risk to the brain to be identified, and treatment to be planned at the right time, an abnormal or concerning head shape in a baby should be checked. With appropriate assessment and treatment, outcomes are often good, and children develop well. The reassuring messages are that craniosynostosis is a treatable condition, that specialist craniofacial teams assess and manage it (often with surgery to correct the fused joint and allow the brain to grow and improve the head shape), that it should be distinguished from common, harmless positional head flattening, and that outcomes are often good; so an abnormal head shape in a baby is worth having assessed.