Syndromic Craniosynostosis factsheet
Introduction
Craniosynostosis is when sutures or bands of tissue between the bones in a baby’s skull close too early. Sutures normally stay open at birth to make it easier for your baby’s head to pass through the birth canal and allow the skull to grow as the brain develops. If a suture closes too early, it can lead to:
- changes in the shape of the skull
- pressure inside the head
- developmental delays.
Syndromic craniosynostosis is when multiple sutures close early because of a syndrome. A syndrome is a group of traits or conditions linked to a specific disease.
Types of Syndromic Craniosynostosis
- Bicoronal Craniosynostosis: Both sutures across the top of the head close early, creating a "short" head shape while keeping the forehead and face even.
- Multisuture Craniosynostosis: Multiple sutures close early, often affecting other body parts like the fingers, mouth, or hearing.
- Pansynostosis: All sutures in the skull close early.
Signs and symptoms
Symptoms vary depending on the syndrome but can include:
- breathing, hearing, or speech challenges
- eating difficulties
- hand and foot differences, such as fused fingers or toes, requiring therapy or surgery.
Specific syndromes related to Syndromic craniosynostosis are below.
Muenke Syndrome
- unusual head shape on both sides
- hearing loss
- joint stiffness in the arms
- generally normal brain development.
Crouzon Syndrome
- unusual forehead and facial shape
- underdeveloped cheekbones
- wide-set eyes and vision problems
- generally normal hand and brain development.
Apert Syndrome
- unusual head shape
- underdeveloped cheekbones
- wide-set eyes
- cleft palate
- dental problems
- syndactyly - fused fingers and/or toes
- developmental delays or learning difficulties.
Pfeiffer Syndrome
- broad, short head shape
- underdeveloped cheekbones
- broad, short thumbs and/or toes
- syndactyly - fused fingers and/or toes
- hearing loss
- developmental delays or learning difficulties
- severe cases may include brain pressure and breathing issues.
Saethre-Chotzen Syndrome
- unusual head shape on one or both sides
- low-set ears
- ptosis - drooping upper eyelids
- syndactyly - fused fingers and/or toes
- low hairline at the back of the head
- developmental delays or learning difficulties.
Antley-Bixler Syndrome
- unusual head shape
- underdeveloped cheekbones
- choanal atresia - airway blockage at the back of the nose
- joint and organ issues
- problems with how their body makes and uses steroid hormones.
Carpenter Syndrome
- unusual head shape
- underdeveloped cheekbones
- low-set ears
- syndactyly - fused fingers and/or toes
- dental problems.
Diagnosis
A specialist doctor can diagnose single-suture craniosynostosis with:
Treatment
Syndromic craniosynostosis is more severe and often requires multiple surgeries during childhood. The timing and type of surgery used will depend on:
- the type of syndromic craniosynostosis
- your child’s age
- your child’s general health.
Spring cranioplasty
Springs are placed to widen the skull, then removed after three months. It works best for babies aged 5–7 months.
Advantages:
- less invasive than other surgeries
- low risk of blood loss and blood transfusion
- high success rate, which can help avoid more invasive surgery.
Complications:
- risk of incomplete correction
- risk of infection in the springs
- may need further surgeries as your child grows.
Posterior vault distraction
A special device called a distractor slowly moves the skull bones over a period of time, creating more space for the brain to grow.
Advantages:
- your child’s doctor controls the adjustments
- low risk of blood loss and blood transfusion
- less invasive.
Complications
- need for intensive care after surgery
- infection risk
- involves multiple procedures.
Posterior vault expansion
Large amounts of bone at the back of the skull are reshaped and repositioned to relieve pressure and help the skull grow.
Advantages:
- done in one procedure
- suitable for older children
- does not use any external devices.
Complications
- major, extensive surgery
- risk of blood loss and blood transfusion
- longer recovery time
- limited range of expansion.
Fronto Orbital Advancement (FOA) surgery
Forehead and eye sockets are reshaped using dissolvable plates and screws.
Advantages:
- major improvement in forehead shape
- allows the brain to grow
- low risk of complications.
Complications:
- risk of infection or bleeding
- risk of damaging the dura, or outer lining of the brain
- risk of asymmetry or scarring
- may need further surgeries as your child grows.
Le Fort III distraction surgery
A special frame is attached to your child’s head and connected to the mid-face bones - cheekbones, upper jaw, and nasal area.
Over three months, the bones are gently moved forward by turning screws on the frame twice daily. Once the bones are in their new position, the frame is removed.
Advantages:
- movement of the bones is slow and controlled
- helps to expand the upper airways.
Complications
- risk of bleeding
- risk of infection
- risk of device breaking or moving out of position
- your child must wear the frame for a few months
- the success of the procedure depends on how well parents, carers and children follow instructions and attend appointments.
Monobloc (fronto facial) distraction surgery
A special frame is attached to your child’s head and connected to the frontofacial bones - the forehead, upper eye sockets, cheekbones, and upper jaw.
Over three months, the bones are gently moved forward by turning screws on the frame twice daily. Once the bones are in their new position, the frame is removed.
Advantages:
- corrects multiple areas in one procedure
- movement of the bones is slow and controlled.
Complications:
- risk of fluid from around the brain leaking
- risk of meningitis – inflammation of tissue around the brain and spinal cord
- risk of infection in the bones
- risk of device breaking or moving out of position
- your child must wear the frame for a few months
- the success of the procedure depends on how well parents, carers and children follow instructions and attend appointments.
