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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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rdf:type
rdfs:label
  • Acromicric dysplasia (en)
  • Akromikrische Dysplasie (de)
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)
foaf:name
  • Acromicric dysplasia (en)
name
  • Acromicric dysplasia (en)
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
Link from a Wikipage to an external page
sameAs
dbp:wikiPageUsesTemplate
DiseasesDB
ICD
  • Q77.8 (en)
MeshID
OMIM
Orphanet
synonyms
  • Acromicric skeletal dysplasia (en)
has 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)
GeneReviewsName
  • Geleophysic Dysplasia (en)
GeneReviewsNBK
  • NBK11168 (en)
geneReviewsId
  • NBK11168
geneReviewsName
  • Geleophysic Dysplasia (en)
dbp:wordnet_type
MeSH ID
  • C535662
prov:wasDerivedFrom
page length (characters) of wiki page
DiseasesDB
  • 32737
ICD10
  • Q77.8
OMIM id
ORPHA
  • 969
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