Brachydactyly type D (original) (raw)
Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1
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| dbo:abstract | Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1 (en) Die Brachydaktylie Typ D (auch Brachymegalodactylismus) ist die häufigste Form der Brachydaktylie, und bezeichnet eine angeborene Fehlbildung des Skelettes, die klinisch mit kurzem, dickem Daumen und breitem Nagelbett anschaulich ist. Der Grosszeh kann gleichfalls verkürzt und verdickt sein. Das Endglied (distale Phalanx) betroffener Daumen hat gewöhnlicherweise zwischen 50 und 66 Prozent der Länge nichtbetroffener Daumen. Die Erstbeschreibung dieses Types stammt aus dem Jahre 1928 durch O. Thomsen. (de) La braquidactilia tipo D, también llamado pulgar corto o pulgar gordo, o más formalmente, braquimegalodactilia, es una malformación congénita hereditaria la cual afecta los pulgares Esta condición afecta aproximadamente al 2-3 % de la población, la causa de esta condición es una mutación en el gen HOXD13, en el cromosoma 2q31.1, es un tipo de braquidactilia. (es) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Brachydaktylie_Typ_D_einseitig.jpg?width=300 |
| dbo:wikiPageID | 57371562 (xsd:integer) |
| dbo:wikiPageLength | 8691 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1117299335 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Rubinstein–Taybi_syndrome dbc:Fingers dbr:Inbreeding dbr:Penetrance dbr:Israeli_Arabs dbr:Genetics dbr:Nail_(anatomy) dbr:Online_Mendelian_Inheritance_in_Man dbr:Epiphysis dbr:Brachydactyly dbr:Brachyphalangy dbr:Medical_genetics dbr:HOXD13 dbr:Et_alia dbr:Chromosome_2 dbr:Fortune-telling dbr:Nail_clubbing dbr:Israel dbr:Ashkenazi_Jews dbr:Jews dbr:Thumb dbr:Digit_(anatomy) dbr:Distal_phalanx dbr:Radiography dbr:Autosomal_dominance |
| dbp:caption | Unilateral brachydactyly type D in a 15-year-old female (en) X-ray of a normal thumb and a thumb with brachydactyly type D showing distal phalange brachyphalangy of said thumb. (en) |
| dbp:field | dbr:Medical_genetics |
| dbp:image | File:X-ray of a normal thumb next to a thumb with Brachydactyly type D.jpg (en) |
| dbp:name | Brachydactyly type D (en) |
| dbp:synonyms | Clubbed thumb, club thumb, short thumb, potter's thumb, royal thumb, murderer's thumb, toe thumb, hammer thumb, stubbed thumb, stub thumb (en) |
| dbp:wikiPageUsesTemplate | dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Reflist dbt:Short_description dbt:Congenital_malformations_and_deformations_of_musculoskeletal_system |
| dct:subject | dbc:Fingers |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1 (en) Die Brachydaktylie Typ D (auch Brachymegalodactylismus) ist die häufigste Form der Brachydaktylie, und bezeichnet eine angeborene Fehlbildung des Skelettes, die klinisch mit kurzem, dickem Daumen und breitem Nagelbett anschaulich ist. Der Grosszeh kann gleichfalls verkürzt und verdickt sein. Das Endglied (distale Phalanx) betroffener Daumen hat gewöhnlicherweise zwischen 50 und 66 Prozent der Länge nichtbetroffener Daumen. Die Erstbeschreibung dieses Types stammt aus dem Jahre 1928 durch O. Thomsen. (de) La braquidactilia tipo D, también llamado pulgar corto o pulgar gordo, o más formalmente, braquimegalodactilia, es una malformación congénita hereditaria la cual afecta los pulgares Esta condición afecta aproximadamente al 2-3 % de la población, la causa de esta condición es una mutación en el gen HOXD13, en el cromosoma 2q31.1, es un tipo de braquidactilia. (es) |
| rdfs:label | Brachydactyly type D (en) Brachydaktylie Typ D (de) Braquidactilia tipo D (es) |
| owl:sameAs | wikidata:Brachydactyly type D dbpedia-de:Brachydactyly type D dbpedia-es:Brachydactyly type D dbpedia-fa:Brachydactyly type D dbpedia-no:Brachydactyly type D dbpedia-sr:Brachydactyly type D https://global.dbpedia.org/id/4i4Bk |
| prov:wasDerivedFrom | wikipedia-en:Brachydactyly_type_D?oldid=1117299335&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Brachydaktylie_Typ_D_einseitig.jpg wiki-commons:Special:FilePath/X-ray_of_a_normal_thu...a_thumb_with_Brachydactyly_type_D.jpg |
| foaf:isPrimaryTopicOf | wikipedia-en:Brachydactyly_type_D |
| foaf:name | Brachydactyly type D (en) |
| is dbo:wikiPageRedirects of | dbr:Stub_thumbs dbr:Clubbed_thumb dbr:Clubbed_thumbs dbr:Toe_thumb dbr:Midget_thumbs dbr:Murderer's_thumb dbr:Potter's_thumb dbr:Stub_thumb dbr:Short_thumb dbr:Brachydactyly_type_d |
| is dbo:wikiPageWikiLink of | dbr:BDD dbr:List_of_diseases_(B) dbr:Racquet_nail dbr:Brachydactyly dbr:Brachydactyly-preaxial_hallux_varus_syndrome dbr:Brachyphalangy dbr:Stub_thumbs dbr:Clubbed_thumb dbr:Clubbed_thumbs dbr:Hall-Riggs_syndrome dbr:7p22.1_microduplication_syndrome dbr:HOXD13 dbr:Chromosome_2 dbr:Hirschsprung's_disease-type_D_brachydactyly_syndrome dbr:List_of_OMIM_disorder_codes dbr:Thumb dbr:Kirner's_deformity dbr:IVIC_syndrome dbr:Toe_thumb dbr:Midget_thumbs dbr:Murderer's_thumb dbr:Viljoen-Kallis-Voges_syndrome dbr:Potter's_thumb dbr:Stub_thumb dbr:Short_thumb dbr:Brachydactyly_type_d |
| is foaf:primaryTopic of | wikipedia-en:Brachydactyly_type_D |
