Apert Syndrome News and Articles
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What is Apert syndrome?
Apert syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Hearing loss may be present. Recurrent ear infections are common and may be associated with an opening in the roof of the mouth (cleft palate). Acne can be severe. Additionally, individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Intellectual development also varies, ranging from normal to mild or moderate mental retardation.
How common is Apert syndrome?
Apert syndrome affects about 1 in 100,000 individuals.
What genes are related to Apert syndrome?
Mutations in the FGFR2 gene cause Apert syndrome.
The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo and fetus. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.
How do people inherit Apert syndrome?
Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from a sporadic new mutation, meaning neither parent has the disorder. Individuals with Apert syndrome, however, can pass along the disorder to the next generation.
Source: National Institutes of Health
Recent Apert Syndrome News and Articles
Study Results from Nanjing Medical University in the Area of Apert Syndrome Published
2012 DEC 7 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- A new study on Apert syndrome
is now available. According to news reporting originating in Jiangsu, People's Republic of China, by NewsRx journalists, research stated, "Le Fort III osteotomy was usually applied to correct midface hypoplasia in Apert syndrome
, and various surgical modifications have been developed in recent years. In this article, we reported the simultaneous Le Fort I, II, and III osteotomies for segmental advancement of midface deficiency involving nasal
bones, zygoma, inferior orbital rims, and maxilla in an adult Chinese patient with Apert syndrome."
The news reporters obtained a quote from the research from Nanjing Medical University, "To achieve the ideal advancement of different parts of midface simultaneously, we divided the midface into 4 segments, including nasal bone combined with upper portion of maxilla, lower portion of maxilla, and left and right zygoma, with simultaneous LeFort I, Le Fort II, and Le Fort III osteotomies, and each segment was repositioned as required respectively to obtain ideal facial aesthetics and favorable occlusion. The long-term stability of bony segment advancements also was observed during 7-year follow-up."
According to the news reporters, the research concluded: "Compared with segmental distraction osteogenesis or multiple-stage surgery, which mainly applied to younger patients with more severe midface hypoplasia, this single-stage strategy offered a reliable surgical alternative for treating adult patient with midface hypoplasia that should be corrected in different levels."
For more information on this research see: Simultaneous Le Fort I, II, and III Osteotomies for Correction of Midface Deficiency in Apert Disease. Journal of Craniofacial Surgery, 2012;23(5):1391-1395. Journal of Craniofacial Surgery can be contacted at: Lippincott Williams & Wilkins, 530 Walnut St, Philadelphia, PA 19106-3621, USA. (Lippincott Williams and Wilkins - www.lww.com; Journal of Craniofacial Surgery - journals.lww.com/jcraniofacialsurgery/pages/default.aspx)
Our news correspondents report that additional information may be obtained by contacting J.W. Dai, Nanjing Medical University, Hosp Jiangsu Prov, Dept. of Oral & Maxillofacial Surg, Nanjing, Jiangsu, People's Republic of China.
Keywords for this news article include: Asia, Jiangsu, Apert Syndrome, People's Republic of China
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