Apert Syndrome

Alternative Names

  • Acrocephalosyndactyly, Type I
  • ACS1
  • ACS I
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

101200

Mode of Inheritance

Autosomal dominant

Gene Map Locus

10q26.13

Description

Apert syndrome is one of the most severe craniosynostosis disorders and is associated with distinct facial features, severe syndactyly of the hands and feet and central nervous system malformations. All affected individuals suffer from progressive calcification and fusion of the bones of the hands and feet and cervical spine. The disease is caused by mutations in the FGFR2 gene, which encodes a cell-surface receptor for fibroblast growth factors.  

Epidemiology in the Arab World

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Other Reports

Lebanon

Sacy et al, 1998, reported the case of a newborn child with Apert syndrome. She suffered from bracycephaly, hypertelorism of the skin, and cutaneous syndactyly of the upper members and ears and succumbed to a cardiac arrest.  

[Sacy R, Gebran S, Slaba C, Matar M, Haddad J, Kamel R. A propos d'un cas de syndrome d'Apert. Rev Med Libanaise. 1998; 10:110-5.]

Morocco

Dihaj et al, 2005, described a two-month-old baby with brachycephaly, bilateral exorbitism, syndactyly of the hands and feet, an anal fistula and a cardiovascular malformation suggestive of Apert syndrome. The infant succumbed to a respiratory infection.

Saudi Arabia

Al-Qattan and Al-Husain, 1996, reported a 1-month-old male who was born with features characteristic of Apert syndrome. In a follow-up, Al-Qattan, 2001, described using split-thickness skin grafts to correct Apert syndactyly in eight patients. 

Aziza et al, 2011, conducted a hospital-based descriptive study between 2002 to 2009 at King Faisal Specialist Hospital and Research Center and found that out of 447 cranofacial patients, 25 had Apert syndrome. 

 

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