The Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome predominantly characterised by skull and limb malformations.
The estimated incidence is at ~ 1 : 65000 - 80000 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.
Postulated risk factors
- increased paternal age 6
There are many of which the classic triad includes : 3
- syndactyly : tends to be complex
Other features include :
- tower shaped head / prominent forehead
- mental retardation (IQ however can be normal)
Named after Eugene Apert : French physician in 1906 although some reports say 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
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Type I acrocephalosyndactyly||✓|
|Acrocephalosyndactyly type I||✗|