There are reported more than 90 syndromes associated with craniosynostosis. Most of these are also associated with other anomalies of the limbs, ears, and cardiovascular system. The syndromes which are most commonly encountered by surgeons are the :
A cardinal feature of the syndromic cranial synostosis is:
Most of these patients have bicoronal synostosis but multiple cranial sutures in different combinations may be involved.
Clover leaf skull or Kleeblattschädel, is seen in any of the syndromes listed above and is characterized by closure of all cranial sutures except sagittal and squamosal.
To the left, the appearance of the "Beaten Copper Cranium" pattern in a CT-scan of a patient with a clover leaf skull deformity.
Apert syndrome is caused by a mutation in the FGFR2 gene and occurs sporadically, but can be inherited in an autosomal dominant fashion.
Apert syndrome is reported in 1:160,000 live births.
The Apert syndrome is characterized by:
Crouzon syndrome is caused by a mutation in the FGFR2 gene and inherited in an autosomal dominant fashion.
Cruzon syndrome is reported in 1:25,000 live births.
The Crouzon syndrome is characterized by:
Saethre-Chotzen syndrome is caused by mutations in the TWIST1 gene, and is inherited in an autosomal dominant fashion.
Saethre-Chotzen syndrome is reported in 1:25,000 – 1:50,000 live births.
The Saethre-Chotzen syndrome is characterized by:
Pfeiffer syndrome is linked to a mutation in in both the FGFR1 (5-10 %) and the FGFR2 (90-95%) gene and is inherited in an autosomal dominant fashion with incomplete penetrance.
Pfeiffer syndrome is reported in 1:100,000 live births.
Pfeiffer syndrome is characterized by:
Muenke syndrome is linked to a mutation in the FGFR3 gene and is inherited as an autosomal dominant trait.
Muenke syndrome is reported in 1:50'000 live births.
Muenke syndrome is characterized by: