Apert syndrome
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
Apert syndrome is a genetic disorder characterised by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Descrição
Apert syndrome is a genetic disorder characterised by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Craniosynostosis causes many of the characteristic facial features of Apert syndrome. Premature fusion of the skull bones prevents the head from growing normally, which leads to a sunken appearance in the middle of the face (midface hypoplasia), a beaked nose, a wrinkled forehead, and an opening in the roof of the mouth (a cleft palate). In individuals with Apert syndrome, an underdeveloped upper jaw can lead to dental problems, such as missing teeth, irregular tooth enamel, and crowded teeth.
Many individuals with Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), eyes that do not look in the same direction (strabismus), and shallow eye sockets (ocular proptosis). Some people with Apert syndrome have hearing loss or recurrent ear infections due to malformed ear structures.
Abnormal development of structures in the face and head can also cause partial blockage of the airways and lead to breathing difficulties in people with Apert syndrome. Craniosynostosis also affects development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Individuals with Apert syndrome have syndactyly of the fingers and toes. The severity of the fusion varies, although the hands tend to be more severely affected than the feet. Most commonly, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Rarely, people with Apert syndrome may have extra fingers or toes (polydactyly). Some people with Apert syndrome have abnormalities in the bones of the elbows or shoulders. These bone problems can restrict movement and impede everyday activities. In some people, abnormalities occur in both sides of the body, but in others, only one side is affected.
Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin with severe acne, or patches of missing hair in the eyebrows.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Acrocephalosyndactyly
Acrocephalosyndactyly type I
Apert's syndrome
Type I acrocephalosyndactyly
Related patient information and medicines
Patient information leaflet
Lábio leporino e fenda palatina
Mos... However, all babies with CLP are carefully examined by a children's doctor (paediatrician) to look for rare conditions that can be associated with CLP. Your baby may also have chromosome tests (blood tests which can detect some genetic conditions) performed. Some of the rare conditions which can have CLP as a part of a group of other.
Patient information leaflet
Síndrome da face esbofeteada
Slapped cheek syndrome is normally a mild, short illness. However, the rash may appear to be quite dramatic. However, it can cause harm to an unborn baby so women who are pregnant a... What is slapped cheek syndrome. Slapped cheek syndrome, sometimes called fifth disease or erythema infectiosum, é an infection caused by the parvovirus B19 virus..
Patient information leaflet
Síndrome do anticorpo antifosfolipídico
Antiphospholipid syndrome is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
Síndrome de dor precordial
Although precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. Precordial catch syndrome (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in, and occur within a small ....
Patient information leaflet
Dor no joelho e na rótula
Most knee conditions cause pain in the front (anterior) of the knee. Pain at the back of the knee is usually caused by a Baker's cyst (also known as a popliteal cyst). The rest of this leaflet deals with patellofemoral pain syndrome, which is much more common. What is patellofemoral pain syndrome. Síndrome da dor patelofemoral is the medical term.
Patient information leaflet
Síndrome pós-concussão
Concussion is an injury to your brain that can occur after a minor head injury. Síndrome pós-concussão is a collection of sintomas that some people develop after they have had concussion. There are various other medical professionals who may be able to help in your rehabilitation, including occupational therapists e physiotherapists. They may.
Leitura adicional e referências
- Apert syndrome; MedlinePlus, National Library of Medicine.
- Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. The elbow in syndromic craniosynostosis. J Craniofac Surg. 1998 May;9(3):201-6. doi: 10.1097/00001665-199805000-00002.
- Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. The feet in Apert's syndrome. J Pediatr Orthop. 1999 Jul-Aug;19(4):504-7. doi: 10.1097/00004694-199907000-00015.
- Anderson PJ, Hall R, Smith PJ. Finger duplication in Apert's syndrome. J Hand Surg Br. 1996 Oct;21(5):649-51. doi: 10.1016/s0266-7681(96)80151-3.
- Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361-8. doi: 10.1097/01.scs.0000157078.53871.11.
- Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671.
- David DJ, Anderson P, Flapper W, Syme-Grant J, Santoreneos S, Moore M. Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. J Craniofac Surg. 2016 Jul;27(5):1125-34. doi: 10.1097/SCS.0000000000002709.
- Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg. 2005 Jan;115(1):264-70.
- Kutkowska-Kazmierczak A, Gos M, Obersztyn E. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. J Appl Genet. 2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4. Epub 2018 Feb 1.
- Surman TL, Logan RM, Townsend GC, Anderson PJ. Oral features in Apert syndrome: a histological investigation. Orthod Craniofac Res. 2010 Feb;13(1):61-7. doi: 10.1111/j.1601-6343.2009.01478.x.
- Verma S, Draznin M. Apert syndrome. Dermatol Online J. 2005 Mar 1;11(1):15. No abstract available.
- Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/
- Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. doi: 10.1002/ajmg.10775.
- Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.