About: Weaver syndrome

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Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is similar to Sotos syndrome and is classified as an overgrowth syndrome.

Attributes	Values
rdf:type	Thing Disease yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Condition113920835 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720
rdfs:label	متلازمة ويفر (ar) Weaver-Syndrom (de) Sindrome di Weaver (it) Zespół Weavera (pl) Weavers syndrom (sv) Weaver syndrome (en)
rdfs:comment	متلازمة ويفر (بالإنجليزية: Weaver syndrome ) تعرف أيضاً بمتلازمة ويفر سميث وهي مرض خلقي شديد الندرة مُصاحَب بنمو سريع يبدأ في مرحلة ما قبل الولادة ويستمر خلال سنوات الطفولة والشباب. تتميز المتلازمة بنضوج عظمي متقدم وعيوب عصبية، هيكلية ووجهية. وُصفت المتلازمة أول مرة بواسطة الدكتور دايفيد ويفر. وتتشابه المتلازمة مع متلازمة سوتو. (ar) La sindrome di Weaver o sindrome di Weaver-Smith è una malattia genetica rara a trasmissione autosomica dominante caratterizzata da una crescita eccessiva fin da prima della nascita (macrosomia fetale) e da un ritardo mentale generalmente lieve. (it) Zespół Weavera (ang. Weaver syndrome, Weaver-Williams syndrome, Weaver-Smith syndrome) – rzadki zespół wad wrodzonych, opisany po raz pierwszy przez Davida D. Weavera i wsp. w 1974 roku. Charakteryzują go przyspieszony wzrost w okresie postnatalnym, szczególna dysmorfia twarzy i malformacje kostne. Fenotyp zespołu Weavera przypomina zespół Sotosa; stwierdzono, że w niewielkiej części przypadków jest też spowodowany mutacjami w genie powodującym zespół Sotosa, NSD1. (pl) Das Weaver-Syndrom oder Weaver-Smith-Syndrom ist eine autosomal-dominant vererbte angeborene Erkrankung mit vermehrtem Körperwachstum (Makrosomie) und meist leichter geistiger Behinderung. Die Betroffenen tragen charakteristische Gesichtszüge. Jungen sind 2- bis 3-mal häufiger betroffen als Mädchen. Im Erwachsenenalter sind die Anomalien weniger ausgeprägt. Die Lebenserwartung der Patienten wird durch die Fehlbildung nicht negativ beeinflusst. (de) Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is similar to Sotos syndrome and is classified as an overgrowth syndrome. (en) Weaver's syndrom är ett syndrom som huvudsakligen motsvarar en snabb tillväxt. Kännetecken på en person med Weaver's är att naglarna sitter djupt, markeringen mellan näsa och mun är längre och ögonen sitter längre isär. Weaver's syndrom är ett mycket ovanligt syndrom som endast ett 100-tal personer i världen har. (sv)
foaf:name	Weaver syndrome (en)
name	Weaver syndrome (en)
dcterms:subject	Syndromes with craniofacial abnormalities Syndromes affecting head size Congenital disorders Rare diseases
Wikipage page ID	12066418 (xsd:integer)
Wikipage revision ID	1106117974 (xsd:integer)
Link from a Wikipage to another Wikipage	Beckwith–Wiedemann syndrome Epilepsy EZH2 Syndromes with craniofacial abnormalities Chromosome 7 (human) Sotos syndrome Strabismus PRC2 Macrocephaly Autosomal dominant Syndromes affecting head size Overgrowth syndrome Histone methyltransferase Speech delay Congenital disorders Rare diseases Hypertelorism Hypertonia Hypotonia St George's Hospital Palpebral fissures Intellectual disability Micrognathia Camptodactyly Chromosome 5 (human) Lymphopoiesis Myogenesis Perlman syndrome Philtrum Occiput NSD1 Ocular hypertelorism Epicanthal folds Retrognathia Hematopoiesis Osteogenesis
sameAs	Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome Weaver syndrome
SNOMED CT	63119004 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:As_of dbt:Cn dbt:Div_col dbt:Div_col_end dbt:For dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Phakomatoses_and_other_congenital_malformations_not_elsewhere_classified
ICD	(en) Q87.3 (en)

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