Muenke 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
Muenke syndrome is a condition characterised by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.
Descrição
Muenke syndrome is a condition characterised by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.
Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may also be malformed. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. Most people with this condition have normal intellect, but developmental delay and learning problems are possible.
The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap with those seen in other craniosynostosis syndromes. A small percentage of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.
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
FGFR3-associated coronal synostosis
Muenke nonsyndromic coronal craniosynostosis
Related patient information and medicines
Patient information leaflet
Síndrome nefrótica
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retent... Diarrhoea and/or being sick (vomiting) - especially in children. If the nephrotic syndrome persists for a long time then wasting of the muscles may develop and 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. What is precordial catch syndrome. Precordial catch syndrome (PCS) é condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Patient information leaflet
Síndrome de alergia oral
Oral allergy syndrome causes symptoms around the mouth that são triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
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 compartimental
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, in the body. It can occur in the hand, the forearm, the upper arm, the buttocks, the leg, the foot and the tummy (abdomen). This leaflet concentrates on compartment syndrome that can affect the limbs and does confiar discuss abdominal compartment syndrome.
Patient information leaflet
Síndrome de realimentação
Síndrome de realimentação was first described in Far East prisoners after the second world war when they developed insuficiência cardíaca after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Síndrome de realimentação é a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Leitura adicional e referências
- Muenke syndrome; MedlinePlus, National Library of Medicine.
- Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8.
- Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078.
- Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Muenke syndrome: An international multicenter natural history study. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6.
- Kruszka P, Rolle M, Kahle KT, Muenke M. Muenke Syndrome. 2006 May 10 [updated 2023 Mar 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/NBK1415/
- Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst. 2004 May;20(5):297-301. doi: 10.1007/s00381-003-0906-y. Epub 2004 Feb 10.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387.
- 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/
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.