Acromicric dysplasia (original) (raw)
Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. The disorder is different (but similar to) from other syndromic entities such as , Weill-Marchesani syndrome, and Myhre syndrome.
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| dbo:abstract | Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. The disorder is different (but similar to) from other syndromic entities such as , Weill-Marchesani syndrome, and Myhre syndrome. (en) Die Akromikrische Dysplasie ist eine sehr seltene angeborene Skelettdysplasie mit den Hauptmerkmalen Kleinwuchs, leichte Gesichtsdysmorphie, Akromikrie (kurze Hände und Füße) mit charakteristischen Veränderungen im Röntgenbild. Die Bezeichnung wurde von den Autoren der Erstbeschreibung aus dem Jahre 1986, dem Pariser Kinderarzt und Humangenetiker Pierre Maroteaux und Mitarbeiter, vorgeschlagen. (de) |
| dbo:diseasesDB | 32737 |
| dbo:geneReviewsId | NBK11168 |
| dbo:geneReviewsName | Geleophysic Dysplasia (en) |
| dbo:icd10 | Q77.8 |
| dbo:meshId | C535662 |
| dbo:omim | 102370 (xsd:integer) |
| dbo:orpha | 969 |
| dbo:wikiPageExternalLink | https://www.ncbi.nlm.nih.gov/books/NBK11168/ |
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| dbp:diseasesdb | 32737 (xsd:integer) |
| dbp:genereviewsname | Geleophysic Dysplasia (en) |
| dbp:genereviewsnbk | NBK11168 (en) |
| dbp:icd | Q77.8 (en) |
| dbp:meshid | 535662.0 |
| dbp:name | Acromicric dysplasia (en) |
| dbp:omim | 102370 (xsd:integer) |
| dbp:orphanet | 969 (xsd:integer) |
| dbp:synonyms | Acromicric skeletal dysplasia (en) |
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| dbp:wordnet_type | http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dcterms:subject | dbc:Rare_diseases |
| rdf:type | owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition |
| rdfs:comment | Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. The disorder is different (but similar to) from other syndromic entities such as , Weill-Marchesani syndrome, and Myhre syndrome. (en) Die Akromikrische Dysplasie ist eine sehr seltene angeborene Skelettdysplasie mit den Hauptmerkmalen Kleinwuchs, leichte Gesichtsdysmorphie, Akromikrie (kurze Hände und Füße) mit charakteristischen Veränderungen im Röntgenbild. Die Bezeichnung wurde von den Autoren der Erstbeschreibung aus dem Jahre 1986, dem Pariser Kinderarzt und Humangenetiker Pierre Maroteaux und Mitarbeiter, vorgeschlagen. (de) |
| rdfs:label | Acromicric dysplasia (en) Akromikrische Dysplasie (de) |
| owl:sameAs | freebase:Acromicric dysplasia wikidata:Acromicric dysplasia dbpedia-de:Acromicric dysplasia dbpedia-fa:Acromicric dysplasia https://global.dbpedia.org/id/4LFhj |
| prov:wasDerivedFrom | wikipedia-en:Acromicric_dysplasia?oldid=1111748733&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Acromicric_dysplasia |
| foaf:name | Acromicric dysplasia (en) |
| is dbo:wikiPageRedirects of | dbr:Geleophysic_dwarfism |
| is dbo:wikiPageWikiLink of | dbr:List_of_diseases_(A) dbr:Stiff_skin_syndrome dbr:Martin_Klebba dbr:Geleophysic_dwarfism |
| is foaf:primaryTopic of | wikipedia-en:Acromicric_dysplasia |