Syndromic Craniosynostosis
Apert Syndrome
Aperts syndrome is usually associated with Bicoronal Craniosynostosis with typical features of Turribrachycephaly. The cause for Aperts syndrome is a mutation in the FGFR2 gene. These babies have exophthalmos, shallow posterior vault and midface hypoplasia (Flat face or Dish face).
In addition to the Craniofacial features, they can also have Syndactyly of hands and feet. (Fused fingers and toes). The deformities are typically called Spade hand, Mitten hand or Rosebud hand depending on the extent of anomaly. Babies also can have developmental delay, obstructive sleep apnoea & mental retardation.
Crouzon Syndrome
Crouzon syndrome babies can have multisuture craniosynostosis usually causing Turribrachycephaly. Babies can have Exophthalmos & Midface hypolasia (Underdeveloped upper jaw). This is caused by a mutation in either FGFR2 or FGFR3 gene.
In Crouzon syndrome, there is usually only Craniofacial anomalies. No hand anomalies occur. Babies have high chances of raised intracranial pressure, vision loss, mental retardation and developmental delay.
Pfeiffer Syndrome
Pfeiffer syndrome is very similar to Apert syndrome syndrome, except for the fact that these babies have short and broad great toes and thumbs.. They usually have multisuture Craniosynostosis with turribrachycephaly, exophthalmos and midface hypoplasia. This is usually caused by a mutation of the FGFR2 gene.
There are 3 types of Pfeiffer syndrome. Type 1 is mild disease. Type 2 and 3 are severe and have high chances of raised intracranial pressure, vision loss, developmental delay, failure to thrive, obstructive sleep apnoea and death. These babies can have Clover Leaf shaped skulls.
Saethre-Chotzen Syndrome
Babies with Saethre-Chotzen syndrome have broad skulls with hypertelorism. These babies can have multi suture craniosynostosis. This is caused by a mutation in the TWIST1 gene.
These babies can have raised intracranial pressure, syndactyly of fingers & toes and developmental delays. They also can have low hairline and slanting eyes.
Muenke Syndrome
Babies with Muenke syndrome usually have unicoronal or bicoronal craniosynostosis. It is caused by a mutuation in FGFR3 gene. Babies can have raised intracranial pressure and downslanting eyes.
A characteristic feature of Muenke syndrome is the presence of varying degrees of hearing loss in addition to Craniosynostosis.