Introduction 

Syndromic craniosynostosis is complex and rare. It is characterised by the fusion (merging together) of multiple sutures (hold bones together). 

Patients experience issues involving brain development, vision, breathing and neurodevelopment. Many require a series of operations throughout their childhood. 

Multisuture craniosynostosis - This may be part of a syndrome, where other parts of the skull and body are affected (eg webbing/fusion of the fingers, hearing loss, cleft palate and underdevelopment of the cheekbones). 

Biicoronal craniosynostosis (most common) - This is where both coronal sutures are fused – the face and forehead will be symmetrical, but the head looks “short” when viewed from the side. 

Pan synostosis - This is when all the cranial sutures (tissue that connects the bones of the skull) are fused in children with syndromic craniosynostosis. 

Here's what to look out for in the types of syndromic craniosynostosis and rare genetic disorders:

• Muenke Syndrome 

Muenke syndrome is the most common type of syndromic craniosynostosis. It is characterised by bicoronal craniosynostosis (both sides of the baby's head close too early) which is associated with hearing loss and problems with the joints of the arm. Intellectual development is usually normal. 

• Crouzon Syndrome 

Crouzon syndrome is characterised by bicoronal craniosynostosis and under-developed cheek bones. The hands and intellectual functions are normal. Children with this condition need to be monitored for delayed onset of increased intracranial pressure. 

• Apert Syndrome 

Apert Syndrome is characterised by bicoronal craniosynostosis, widely spaced eyes, under-developed cheek bones, a cleft palate, and fused fingers and toes, known as syndactyly. 

Beyond the visible physical characteristics, children with Apert Syndrome may experience dental issues and intellectual challenges. 

• Pfeiffer Syndrome 

Affected children may be bicoronal or pan-synostosis. Signs include broad and short thumbs and under-developed cheek bones, hearing loss and developmental delay. 

• Saethre-Chotzen Syndrome 

Saethre Chotzen syndrome is characterised by uni- or bi-coronal craniosynostosis, low set ears, ptosis (drooping) of the upper eyelids, fusion of the fingers and low hairline. 

• Antley-Bixler Syndrome 

Antly-Bixler Syndrome is associated with multi-suture craniosynostosis and under-developed cheek bones. Children with Antley-Bixler Syndrome may have an airway blockage at the back of the nose called “choanal atresia” that requires early surgery.

There may be issues with the joints of the arms, internal organs (especially the urinary tract) and the way steroids are created and used within the body. 

• Carpenter Syndrome 

Carpenter Syndrome occurs in children with multi-suture craniosynostosis. Patients have underdeveloped cheekbones, low set ears, dental issues, fusions of the skin between the fingers and toes, and commonly extra fingers and toes. 

Craniosynostosis syndromes are diagnosed through physical examination at birth with CT scans and X-rays used to confirm the diagnosis. 

Genetic testing may be conducted for mutations of one of the fibroblast growth factor receptor (FGFR) genes.

Syndromic craniosynostosis is more severe and requires more surgery than single suture synostosis. 

The choice and timing of surgery will depend on the type of syndromic craniosynostosis and the child’s age. 

Posterior Vault Expansion: There are three main types - Spring Cranioplasty, Posterior Vault Distraction, and Posterior Vault Expansion. 

Many children with syndromic craniosynostosis have bicoronal synostosis, resulting in a “short head” (brachycephaly) when viewed from the side. To improve the head shape and the give the brain room to grow, surgery is used to expand the volume at the back of the skull.

Fronto Facial Surgeries: There are three main types - Fronto Orbital Advancement (FOA), Le Fort III Distraction, Monobloc (Fronto Facial) Distraction.

Children with syndromic craniosynostosis can have unusual forehead shape, underdeveopled cheekbones, shallow orbits (causing prominent looking eyes), problems with the upper airway - causing snoring or Obstructive Sleep Apnoea (OSA), and a marked underbite. 

Surgery expands the volume at the front of the skull, repairing the above issues and respositioning the cheek bones when needed.  

Patients with syndromic craniosynostosis have more complicated needs than those with non-syndromic) craniosynostosis. Patients have impaired growth of the skull and facial bones that makes it harder to achieve a lasting correction of the appearance and maintain adequate space in the skull for the growing brain. 

A patient may need several operations during childhood to “catch up” to where they should be if their skulls and face were growing normally.

Patients with syndromic craniosynostosis frequently have additional problems with breathing, hearing, speech and eating. They may be born with deformed hands and feet which present additional functional and surgical challenges. 

Patients with complex problems require a team of specialists with expertise in each of the child’s problem areas and experience in caring for children with syndromic craniosynostosis.

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