Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
The estimated incidence is at 1:65-80,000 pregnancies.
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.
- increased paternal age has been proposed 6
There are many of which the classic triad includes 3:
- syndactyly (tends to be complex)
Other features include:
- tower shaped head and prominent forehead
- mental retardation (IQ however can be normal)
History and etymology
It is named after Eugene Apert, French physician, 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