About: DeSanctis–Cacchione syndrome

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DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	DeSanctis–Cacchione syndrome (en) DeSanctis-Cacchione-Syndrom (de) Síndrome de De Sanctis-Cacchione (es) Malattia di DeSanctis-Cacchione (it)
rdfs:comment	DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. (en) El Síndrome de De Sanctis-Cacchione, también conocido por su nombre obsoleto idiotez xerodermica (o idiocia xerodermica), es una condición genética autosomica recesiva infrecuente la cual forma parte de uno de los tipos más infrecuentes y severos de xeroderma pigmentosum. (es) La malattia di De Sanctis-Cacchione o idiozia xerodermica è una malattia congenita caratterizzata da xeroderma pigmentoso e ritardo dello sviluppo psicomotorio spesso associati ad altri sintomi meno specifici. (it) Das DeSanctis-Cacchione-Syndrom ist eine sehr seltene, zu den neurokutanen Erkrankungen gezählte angeborene Erkrankung mit einer Kombination von Xeroderma pigmentosum und neurologischen Veränderungen. Die Bezeichnung gilt als veraltet, das Syndrom wird als Sonderform des Xeroderma pigmentosum Typ D angesehen. Synonyme sind: Xeroderma pigmentosum mit neurologischen Manifestationen; DSC-Syndrom; Xerodermie mit geistiger Behinderung; Xerodermische Idiotie; xerodermisches Idiotie-Syndrom. (de)
foaf:name	DeSanctis–Cacchione syndrome (en)
name	DeSanctis–Cacchione syndrome (en)
foaf:depiction
dcterms:subject	Genodermatoses Syndromes affecting head size Rare syndromes Syndromes affecting hearing Syndromes affecting the eye Syndromes affecting the nervous system Syndromes with intellectual disability DNA replication and repair-deficiency disorders Syndromes affecting the skin
Wikipage page ID	10965841 (xsd:integer)
Wikipage revision ID	1095659215 (xsd:integer)
Link from a Wikipage to another Wikipage	Genetic disorder Cockayne syndrome Genodermatoses Syndromes affecting head size Rare syndromes Syndromes affecting hearing Syndromes affecting the eye Syndromes affecting the nervous system Syndromes with intellectual disability DNA replication and repair-deficiency disorders ERCC6 Syndromes affecting the skin Xeroderma pigmentosum List of cutaneous conditions
sameAs	DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome
dbp:wikiPageUsesTemplate	dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Dermatology-stub dbt:DNA_repair-deficiency_disorder
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
DiseasesDB	29880 (xsd:integer)
MeshID	535992.0 (nicaraguanCórdoba)
OMIM	278800 (xsd:integer)
Orphanet	1569 (xsd:integer)
caption	DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner (en)
synonyms	Xeroderma pigmentosum with neurologic manifestation (en)
has abstract	Das DeSanctis-Cacchione-Syndrom ist eine sehr seltene, zu den neurokutanen Erkrankungen gezählte angeborene Erkrankung mit einer Kombination von Xeroderma pigmentosum und neurologischen Veränderungen. Die Bezeichnung gilt als veraltet, das Syndrom wird als Sonderform des Xeroderma pigmentosum Typ D angesehen. Synonyme sind: Xeroderma pigmentosum mit neurologischen Manifestationen; DSC-Syndrom; Xerodermie mit geistiger Behinderung; Xerodermische Idiotie; xerodermisches Idiotie-Syndrom. Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1932 durch den Italienischen Dermatologen Carlo DeSanctis und den Arzt Aldo Cacchione. (de) DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. (en) El Síndrome de De Sanctis-Cacchione, también conocido por su nombre obsoleto idiotez xerodermica (o idiocia xerodermica), es una condición genética autosomica recesiva infrecuente la cual forma parte de uno de los tipos más infrecuentes y severos de xeroderma pigmentosum. (es) La malattia di De Sanctis-Cacchione o idiozia xerodermica è una malattia congenita caratterizzata da xeroderma pigmentoso e ritardo dello sviluppo psicomotorio spesso associati ad altri sintomi meno specifici. (it)
MeSH ID	C535992
prov:wasDerivedFrom	wikipedia-en:DeSanctis–Cacchione_syndrome?oldid=1095659215&ns=0
page length (characters) of wiki page	3447 (xsd:nonNegativeInteger)
DiseasesDB	29880
OMIM id	278800 (xsd:integer)
ORPHA	1569
foaf:isPrimaryTopicOf	wikipedia-en:DeSanctis–Cacchione_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (D) De Sanctis DeSanctis DeSanctis-Cacchione syndrome Progeroid syndromes Xeroderma pigmentosum List of skin conditions List of syndromes De Sanctis-Cacchione syndrome
is Wikipage redirect of	DeSanctis-Cacchione syndrome De Sanctis-Cacchione syndrome
is Wikipage disambiguates of	DeSanctis
is foaf:primaryTopic of	wikipedia-en:DeSanctis–Cacchione_syndrome

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