Weill-Marchesani 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
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
Descrição
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.
An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.
Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Brachydactyly-spherophakia syndrome
Brachymorphy with spherophakia syndrome
Congenital mesodermal dysmorphodystrophy
Marchesani syndrome
Marchesani-Weill Syndrome
Spherophakia-brachymorphia syndrome
WMS
Related patient information and medicines
Patient information leaflet
Costela cervical
About 1 in 100 pessoas são born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
Patient information leaflet
Síndrome de Marfan
Marfan syndrome (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome can affect different people in different ways. Some people have mild symptoms; other people have more severe symptoms. You may have a history of Marfan syndrome.
Patient information leaflet
Distúrbios do espectro de hipermobilidade
Distúrbios do espectro de hipermobilidade include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. Anyone who has symptoms... Hypermobility spectrum disorders (HSDs) são a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred.
Patient information leaflet
Síndrome anticonvulsivante fetal
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome é a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
síndrome de Down
síndrome de Down (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
Leitura adicional e referências
- Weill-Marchesani syndrome; MedlinePlus, National Library of Medicine.
- Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29.
- Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13.
- Evereklioglu C, Hepsen IF, Er H. Weill-Marchesani syndrome in three generations. Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. doi: 10.1038/eye.1999.226.
- Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289.
- Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34.
- Kojuri J, Razeghinejad MR, Aslani A. Cardiac findings in Weill-Marchesani syndrome. Am J Med Genet A. 2007 Sep 1;143A(17):2062-4. doi: 10.1002/ajmg.a.31861. No abstract available.
- Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat. 2008 Dec;29(12):1425-34. doi: 10.1002/humu.20797.
- Marzin P, Cormier-Daire V, Tsilou E. Weill-Marchesani Syndrome. 2007 Nov 1 [updated 2020 Dec 10]. 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/NBK1114/
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.