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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rdfs:label
| - Acromicric dysplasia (en)
- Akromikrische Dysplasie (de)
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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)
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foaf:name
| - Acromicric dysplasia (en)
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name
| - Acromicric dysplasia (en)
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| - Acromicric skeletal dysplasia (en)
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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)
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GeneReviewsName
| - Geleophysic Dysplasia (en)
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geneReviewsName
| - Geleophysic Dysplasia (en)
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