| dbo:abstract |
Das Karsch-Neugebauer-Syndrom (Englisch: nystagmus-split hand syndrome) ist eine sehr seltene angeborene Erbkrankheit mit den Hauptmerkmalen Ektrodaktylie (Spalthand/Spaltfuß) und Nystagmus (Augenzittern). Die Erstbeschreibung erfolgte im Jahre 1936 durch den Augenarzt J. Karsch und im Jahre 1962 durch den Wiener Orthopäden H. Neugebauer anhand einer betroffenen Familie in mehreren Generationen. (de) Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome is a rare genetic disorder which is characterized by the absence of the central rays of the hands and foot resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. Only 10 cases from 4 families worldwide have been described in medical literature. (en) |
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dbr:Cataract dbr:Nystagmus dbc:Rare_genetic_syndromes dbr:Genetic_disorder dbr:Genetic_mutation dbr:Medical_genetics dbc:Syndromes_affecting_the_eye dbc:Autosomal_dominant_disorders dbr:Ectrodactyly |
| dbp:causes |
dbr:Genetic_mutation |
| dbp:complications |
Usually, none (en) |
| dbp:deaths |
- (en) |
| dbp:duration |
Lifelong (en) |
| dbp:frequency |
Only 10 cases from 4 families have been described in medical literature (en) |
| dbp:imageSize |
290 (xsd:integer) |
| dbp:name |
Split hand split foot-nystagmus syndrome (en) |
| dbp:onset |
Birth (en) |
| dbp:prevention |
None (en) |
| dbp:prognosis |
Good (en) |
| dbp:risks |
Having a parent with the condition (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:symptoms |
Lobster claw deformity of the hands and feet with nystagmus and other eye anomalies (en) |
| dbp:wikiPageUsesTemplate |
dbt:Reflist dbt:Infobox_medical_condition |
| dct:subject |
dbc:Rare_genetic_syndromes dbc:Syndromes_affecting_the_eye dbc:Autosomal_dominant_disorders |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Das Karsch-Neugebauer-Syndrom (Englisch: nystagmus-split hand syndrome) ist eine sehr seltene angeborene Erbkrankheit mit den Hauptmerkmalen Ektrodaktylie (Spalthand/Spaltfuß) und Nystagmus (Augenzittern). Die Erstbeschreibung erfolgte im Jahre 1936 durch den Augenarzt J. Karsch und im Jahre 1962 durch den Wiener Orthopäden H. Neugebauer anhand einer betroffenen Familie in mehreren Generationen. (de) Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome is a rare genetic disorder which is characterized by the absence of the central rays of the hands and foot resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. Only 10 cases from 4 families worldwide have been described in medical literature. (en) |
| rdfs:label |
Karsch-Neugebauer-Syndrom (de) Split hand split foot-nystagmus syndrome (en) |
| owl:sameAs |
wikidata:Split hand split foot-nystagmus syndrome dbpedia-de:Split hand split foot-nystagmus syndrome https://global.dbpedia.org/id/zunk |
| prov:wasDerivedFrom |
wikipedia-en:Split_hand_split_foot-nystagmus_syndrome?oldid=1101838926&ns=0 |
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wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg |
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wikipedia-en:Split_hand_split_foot-nystagmus_syndrome |
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dbr:Karsch-Neugebauer_syndrome |
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dbr:List_of_diseases_(S) dbr:List_of_genetic_disorders dbr:Karsch-Neugebauer_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:Split_hand_split_foot-nystagmus_syndrome |
