Craniosynostosis is the premature fusion of one or more cranial sutures.

Types

 simple craniosynostosis

• sagittal craniosynostosis
• coronal craniosynostosis
• metopic craniosynostosis
• lambdoid craniosynostosis
• oxycephaly

 cloverleaf skull

Etiology

 monogenic conditions

• Apert syndrome
• Crouzon syndrome
• Jackson-Weiss syndrome
• Pfeiffer syndrome
• Muenke syndrome
• Boston type craniosynostosis
• Greig cephalopolysyndactyly (7p13)
• Saethre-Chotzen syndrome (7p21-p22)

 chromosomal diseases

• trisomy 5q (5q-trisomy) (MSX2) (17955513)

 rickets
 fetal hyperthydoidism
 inherited metabolic diseases

• mucopolysaccharidoses
  • Hurler syndrome
  • Morquio syndrome
  • beta-glucuronidase deficiency

• mucolipidoses
  • mucolipidose III

 hematological diseases

• thalassemias
• sickle cell anemia
• congenital hemolytic icterus
• polycythemia vera

 teratogens

• aminopterin
• diphenylhydantoin
• retinoic acid
• valproic acid

Associations

 malformations

• microcephaly
• encephalocele
• shunted hydrocephalus
• holoprosencephaly

MOlecular biology

 identical proline—>arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR1) (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg) in

• type I Pfeiffer
• Apert syndrome
• Muenke syndrome

References

 Wilkie AO. Craniosynostosis : genes and mechanisms. Hum Mol Genet. 1997 ;6(10):1647-56. PMID : 9300656

 Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 1995 Jul;4(7):1229-33. PMID: 8528214