About: Costello syndrome

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Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	Costello syndrome (en) متلازمة كوستيلو (ar) Costello-Syndrom (de) Síndrome de Costello (es) Sindrome di Costello (it) Syndrome de Costello (fr) Zespół Costello (pl) 先天性水痘症候群 (zh)
rdfs:comment	Décrit pour la première fois en 1971, le syndrome de Costello, ou syndrome facio-cutanéo-squelettique, est une maladie rare qui se révèle dans les premiers mois de la vie et se caractérise par un retard de croissance postnatal, des traits épais, un déficit intellectuel et des anomalies cutanées et cardiaques. (fr) Zespół Costello (łac. syndroma Costello, ang. Costello syndrome, faciocutaneoskeletal syndrome, FCS syndrome) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie dominująco. Charakteryzuje się niedoborem wzrostu, opóźnionym rozwojem psychoruchowym, nadmierną wiotkością małych stawów, hiperpigmentacją skóry, charakterystycznym wyglądem twarzy oraz niepełnosprawnością intelektualną. (pl) 克斯提洛氏彈性蛋白缺陷症（Costello syndrome），又名小黑人症、科斯特洛綜合症、面肌肉骨骼綜合症（faciocutaneoskeletal syndrome）或FCS綜合症等各種名稱，是一種罕見的遺傳疾病，會影響身體的許多部位。「小黑人症」這個名稱源於患者的皮膚常因而黝黑。 (zh) متلازمة كوستيلو، والمعروفة أيضًا باسم المتلازمة الوجهية الجلدية الهيكلية أو متلازمة إف سي إس، هي اضطراب وراثي نادر يصيب العديد من أجزاء الجسم. تتصف هذه المتلازمة بتأخر في التطور الجسدي وإعاقات معرفية وملامح مميزة في الوجه ومفاصل شديدة المرونة وطيات رخوة من الجلد الإضافي خصوصًا على اليدين والقدمين. تحدث الشذوذات القلبية بشكل شائع، مثل تسرع ضربات القلب وتشوهات القلب الخلقية وزيادة نمو عضلات القلب (اعتلال العضلة القلبية الضخامي). قد يكون الأطفال المصابون بالمتلازمة كبيري الحجم عند الولادة، لكن النمو لديهم يكون أبطأ من أقرانهم كما يعانون من مشاكل في التغذية. لاحقًا خلال الحياة، يكون الأشخاص المصابون بهذه المتلازمة قصيري القامة ويملكون مستويات منخفضة من هرمونات النمو. تعتبر هذه المتلازمة جزءًا من اعتلالات عائلة بروتينات راس. (ar) Das Costello-Syndrom ist eine Fehlbildung, die aufgrund von Mutationen im -Gen entsteht. Kinder mit Costello-Syndrom sind bei Geburt vielfach normal groß, aber in der Entwicklung verzögert. Besondere charakteristische äußerliche Kennzeichen sind Kleinwüchsigkeit, ungewöhnlich flexible Gelenke, Falten aus insbesondere an den Händen (Waschfrauenhände) und Füßen, dicke Lippen, Kräuselhaar, mentale Retardierung, craniofaciale, kardiologische und dermatologische Abnormalitäten. Weiters kommt es noch zur verfrühten Alterung und einer erhöhten Prädisposition für eine Vielzahl von Tumoren. (de) Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy. (en) El Síndrome de Costello (SC) es una enfermedad congénita (que está presente desde el nacimiento) y multisistémica (que afecta a varios aparatos o sistemas del organismo), extremadamente rara, de la que hay descritos en la literatura menos de un centenar de casos, el origen genético parece involucrar una disfunción genético-metabólica. (es) La sindrome di Costello è una malattia genetica rara descritta per la prima volta nel 1971 dal medico neozelandese Jack Costello, da cui deriva il nome. Dopo 14 anni dalla prima segnalazione la sua effettiva esistenza è stata confermata da due autori americani, che ne hanno ampliato le caratteristiche distintive. Una reale incidenza della sindrome di Costello non è stata calcolata. In letteratura sono descritti oltre 100 casi di pazienti affetti. (it)
foaf:name	Costello syndrome (en)
name	Costello syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the heart Syndromes with craniofacial abnormalities Genodermatoses Rare syndromes Autosomal dominant disorders RASopathies
Wikipage page ID	3572469 (xsd:integer)
Wikipage revision ID	1106280750 (xsd:integer)
Link from a Wikipage to another Wikipage	Cancer American Society of Human Genetics Benign tumor Progeria Mutation Bladder cancer Allele Hypertrophic cardiomyopathy Rhabdomyosarcoma Syndromes affecting the heart Syndromes with craniofacial abnormalities Genetic disorder Neuron RASopathy Gene Congenital heart defect dbr:Lovastatin Clinical trial Papilloma Public domain Autosomal dominant Transitional cell carcinoma HRAS Alcino J. Silva Genodermatoses Noonan syndrome Cardiofaciocutaneous syndrome Cell division Cell growth Farnesyltransferase inhibitor Protein Rare syndromes Heart Autosomal dominant disorders Tachycardia Signal transduction RASopathies Growth hormone Neuroblastoma Neurofibromatosis type I Chromosome 11 (human) Short stature Soft tissue Intellectual disabilities PTPN11 Myocardium Proto-oncogene Francis Collins (geneticist) Ras/MapK pathway
Link from a Wikipage to an external page	http://ghr.nlm.nih.gov/condition=costellosyndrome, https://web.archive.org/web/20070312102958/http:/www.genetests.org/query%3Fdz=costello https://web.archive.org/web/20091214090609/http:/www.postpals.co.uk/pals/Daisy+N
sameAs	Costello syndrome Costello syndrome Costello syndrome Costello syndrome

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