About: Hajdu–Cheney syndrome

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Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisorders yago:WikicatSkeletalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Hajdu-Cheney-Syndrom (de) Hajdu–Cheney syndrome (en) Síndrome de Hajdu Cheney (es) Sindrome di Hajdu-Cheney (it) Zespół Hajdu-Cheneya (pl)
rdfs:comment	Das Hajdu-Cheney-Syndrom, auch autosomal-dominante Akroosteolyse oder familiäre idiopathische Akroosteolyse oder hereditäre idiopathische Osteolyse Typ VI genannt, ist eine sehr seltene Erbkrankheit, die zur lokalen Degeneration von Knochengewebe (Osteolyse) führt. (de) El síndrome de Hajdu Cheney es una enfermedad extremadamente rara del tejido conectivo (tejido de sostén y unión de otros tejidos y partes del cuerpo) que pertenece al grupo de las acrosteolisis, éstas son un grupo heterogéneo de trastornos del hueso, caracterizadas por la reabsorción ósea. Clínicamente se caracteriza por hipocrecimiento, cara peculiar y desarrollo anormal de los huesos, articulaciones y dientes. Esta enfermedad fue descubierta en 1948, por N. Hajdu y posteriormente, en 1965, W. D. Cheney completó la descripción. (es) Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948 (en) La sindrome di Hajdu-Cheney è una malattia congenita autosomica dominante estremamente rara che colpisce le ossa ed il tessuto connettivo caratterizzata da un grave ed eccessivo riassorbimento osseo che conduce ad osteoporosi e ad un ampio spettro di possibili sintomi. Si riscontra di solito flessibilità delle ossa che induce malformazioni, soprattutto, ma non solo, a carico delle ossa lunghe, bassa statura, dolicocefalia, malformazione della mandibola e della mascella da cui originano problemi nell'articolazione della parola. (it) Zespół Hajdu-Cheneya, zespół Cheneya, akroosteoliza z osteoporozą i zmianami w czaszce i żuchwie – rzadki zespół wad wrodzonych. Choroba została po raz pierwszy opisana przez Cheneya w 1965 roku u rodziny pochodzącej ze stanu Michigan. U członków rodziny obserwowano osteolizę akralnych (końcowych) części kości długich, liczne kostki wstawne i hipoplazję gałęzi żuchwy. Wczesna resorpcja wyrostków zębodołowych powoduje przedwczesną utratę zębów. Termin zespołu Cheneya wprowadzili Dorst i Victor McKusick. Wczesny opis pasujący do fenotypu określonego jako zespół Cheneya pochodzi z 1948 roku i jest autorstwa węgierskiego radiologa , który opisał jeden przypadek choroby razem z Ralphem Kauntzem. Stąd powszechna jest obecnie nazwa zespołu Hajdu-Cheneya. Do dziś opisano około 50 przypadków zespoł (pl)
foaf:name	Hajdu–Cheney syndrome (en)
name	Hajdu–Cheney syndrome (en)
foaf:depiction
dcterms:subject	Congenital disorders Rare syndromes Autosomal dominant disorders
Wikipage page ID	4469900 (xsd:integer)
Wikipage revision ID	1100651686 (xsd:integer)
Link from a Wikipage to another Wikipage	Nonsense-mediated mRNA decay Connective tissue Orphanet PEST sequence Osteoporosis Congenital disorders Rare syndromes Acquisition of speech Hypertelorism Autosomal dominant disorders Bisphosphonate Dominance (genetics) Autosome Bone resorption Dolichocephalic Congenital abnormality Plagiocephaly Motor skills Wormian bone NOTCH2
Link from a Wikipage to an external page	http://www.omim.org/entry/102500%3Fsearch=number%3A%28102500%20OR%20600275%29&highlight=102500%20600275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php%3FLng=GB&Expert=955
sameAs	Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome Hajdu–Cheney syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cite_journal dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refbegin dbt:Refend dbt:Reflist dbt:Osteochondropathy
thumbnail	wiki-commons:Special:FilePath/HajduCheney.png?width=300
DiseasesDB	31486 (xsd:integer)
ICD	M89.5 (en)
MeshID	D031845 (en)
OMIM	102500 (xsd:integer)
Orphanet	955 (xsd:integer)
caption	Hajdu-Cheney (en)

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