Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
The estimated incidence is 1 case per 65-80,000 pregnancies.
- increased paternal age has been proposed 6
Apert syndrome was originally described as a triad of:
However, other features may include:
- tower-shaped head and prominent forehead
- intellectual retardation (IQ however can be normal)
Thought to occur from a defect on the fibroblast growth factor receptor 2 (FGFR2) gene, located on chromosome 10q26. It can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic.
There are many abnormalities which may be visible on imaging including 3:
- craniosynostosis: brachycephaly
- facial hypoplasia
- syndactyly (tends to be complex)
Other more subtle features which may be evident include tower-shaped head and prominent forehead, hypertelorism and exophthalmos.
History and etymology
It is named after Eugene Apert (1868–1940) 7, French pediatrician, who described it in 1906, although some reports suggest it was first described by Wheaton in 1894 2.
- 1. Robson CD, Mulliken JB, Robertson RL et-al. Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. AJNR Am J Neuroradiol. 2000;21 (9): 1707-17. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 2. Kaufmann K, Baldinger S, Pratt L. Ultrasound detection of Apert syndrome: a case report and literature review. Am J Perinatol. 1997;14 (7): 427-30. doi:10.1055/s-2007-994174 - Pubmed citation
- 3. Athanasiadis AP, Zafrakas M, Polychronou P et-al. Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal. Diagn. Ther. 2008;24 (4): 495-8. doi:10.1159/000181186 - Pubmed citation
- 4. Skidmore DL, Pai AP, Toi A et-al. Prenatal diagnosis of Apert syndrome: report of two cases. Prenat. Diagn. 2003;23 (12): 1009-13. doi:10.1002/pd.744 - Pubmed citation
- 5. David AL, Turnbull C, Scott R et-al. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat. Diagn. 2007;27 (7): 629-32. doi:10.1002/pd.1758 - Pubmed citation
- 6. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 7. Lee DS, Chung KC. Eugène Apert and his contributions to plastic surgery. (2010) Annals of plastic surgery. 64 (3): 362-5. doi:10.1097/SAP.0b013e3181b0bb53 - Pubmed