Craniosynostosis is the premature fusion of one or more cranial sutures.
Types
simple craniosynostosis
- sagittal craniosynostosis
- coronal craniosynostosis
- metopic craniosynostosis
- lambdoid craniosynostosis
- oxycephaly
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)
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