Acromesomelic dysplasia

Common Name(s)

Acromesomelic dysplasia

Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.

There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below.
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dysplasia, Grebe type
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acromesomelic dysplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acromesomelic dysplasia" returned 9 free, full-text research articles on human participants. First 3 results:

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
 

Author(s): Priyanka Srivastava, Moni Tuteja, Ashwin Dalal, Kausik Mandal, Shubha R Phadke

Journal: J. Genet.. 2016 Dec;95(4):905-909.

 

Acromesomelic dysplasia, type Maroteaux is a disorder characterized by disproportionate short stature predominantly affecting the middle and distal segments of the upper and lower limbs. It is an autosomal recessive disorder due to mutation in NPR2 gene which impairs skeletal growth. ...

Last Updated: 20 Dec 2016

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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
 

Author(s): Katja Stange, Julie D├ęsir, Naseebullah Kakar, Thomas D Mueller, Birgit S Budde, Christopher T Gordon, Denise Horn, Petra Seemann, Guntram Borck

Journal:

 

Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients ...

Last Updated: 26 Jun 2015

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The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).
 

Author(s): Frederic Shapiro, Lauren Barone, Andrew Johnson, Evelyn Flynn

Journal:

 

The cn/cn dwarf mouse is caused by a loss-of-function mutation in the natriuretic peptide receptor 2 (NPR-2) gene which helps positively regulate endochondral longitudinal bone growth. The gene mutation corresponds to that in the human skeletal dysplasia Acromesomelic Dysplasia Maroteaux ...

Last Updated: 1 Nov 2014

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Reviews from the PubMed Database

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The terms "Acromesomelic dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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