Learn About Acromesomelic Dysplasia

What is the definition of 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.
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What are the alternative names for Acromesomelic Dysplasia?
  • Acromesomelic dysplasia
  • Acromesomelic dwarfism
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What are the latest Acromesomelic Dysplasia Clinical Trials?
Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children

Summary: The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Acromesomelic Dysplasia?
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Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report.