Weaver syndrome
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).
Descrizione
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).
People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.
Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumour called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Camptodactyly-overgrowth-unusual facies
Weaver-Smith syndrome
WSS
Related patient information and medicines
Patient information leaflet
Sindrome nefrosica
Sindrome nefrosica 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 retention (oedema) which is mainly due to the low protein level in the blood. A medicine called an angiotensin-converting enzyme (ACE) inhibitor or an angiotensin-II receptor.
Patient information leaflet
Sindrome da allergia orale
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as febbre da fieno e allergia per 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
Sindrome di Osler-Weber-Rendu
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. Sindrome di Osler-Weber-Rendu is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
Patient information leaflet
Morte in culla
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. Morte in culla is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
Dolore al ginocchio e alla rotula
Most knee conditions cause pain in the front (anterior) of the knee. Patellofemoral... 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. Patellofemoral pain syndrome is.
Patient information leaflet
Sindrome da refeeding
Sindrome da refeeding was first described in Far East prisoners after the second world war when they developed insufficienza cardiaca after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Sindrome da refeeding è a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Ulteriori letture e riferimenti
- Weaver syndrome; MedlinePlus, National Library of Medicine.
- Al-Salem A, Alshammari MJ, Hassan H, Alazami AM, Alkuraya FS. Weaver syndrome and defective cortical development: a rare association. Am J Med Genet A. 2013 Jan;161A(1):225-7. doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13. No abstract available.
- Coulter D, Powell CM, Gold S. Weaver syndrome and neuroblastoma. J Pediatr Hematol Oncol. 2008 Oct;30(10):758-60. doi: 10.1097/MPH.0b013e3181758974.
- Crea F. Histone code, human growth and cancer. Oncotarget. 2012 Jan;3(1):1-2. doi: 10.18632/oncotarget.435.
- Cross NC. Histone modification defects in developmental disorders and cancer. Oncotarget. 2012 Jan;3(1):3-4. doi: 10.18632/oncotarget.436.
- Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.
- Neylon OM, Werther GA, Sabin MA. Overgrowth syndromes. Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995.
- Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385.
- Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.
- Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):86-91. doi: 10.1002/ajmg.c.31359. Epub 2013 Apr 16.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.