Last updated: January 21, 2022
Craniosynostosis (CS) is the premature fusion of one or more cranial sutures. It is caused by a mutation in genes that code for fibroblast growth factor. Most affected infants are asymptomatic; CS is usually recognized based on an abnormal head shape in the first year of life. The shape of the skull is determined by which suture is prematurely fused, of which the sagittal suture (scaphocephaly) is the most commonly affected. When multiple sutures are involved, CS may cause hydrocephalus and/or cerebral constriction. Diagnosis is clinical, with skull x-ray and CT scan helping to assess the extent of fusion. Surgery is recommended in all infants for cosmetic reasons and to treat/prevent intracranial complications.
Epidemiological data refers to the US, unless otherwise specified.
- Usually asymptomatic
- Recognized as an abnormal head shape within the first year of life
|Skull deformity due to premature fusion ||Suture/s involved ||Features |
- Most common type of CS (∼ 45%)
- Long, narrow skull (boat-shaped)
(unilateral coronal synostosis)
- Unilateral coronal suture
2nd most common type of CS
- Laterally twisted/oblique skull and face
(unilateral lambdoid synostosis)
- Unilateral lambdoid suture
- Rare type of CS
- Twisted/oblique skull
- Occipitoparietal flattening on the affected side
Low-set ears on the affected side
- Common type of CS (∼ 25% of cases)
- Triangular shaped head
- Prominent occiput and parietal eminences
Close-set eyes (hypotelorism)
|Brachycephaly || |
- Bilateral coronal sutures
- Short, broad, flattened skull
- Bilateral coronal sutures (if left untreated)
- Long skull (increased craniocaudal dimension)
The following conditions show patency of sutures similar to craniosynostosis on skull x-ray or ultrasound:
The differential diagnoses listed here are not exhaustive.
Surgery: indicated in all patients either to minimize cerebral constriction or for cosmetic reasons
- Strip craniectomy or cranial vault remodeling
- Timing: controversial; mostly recommended at 3–9 months of age
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