Acromesomelic Dysplasia Overview

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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.
What are the alternative names for Acromesomelic Dysplasia?
  • Acromesomelic dysplasia
  • Acromesomelic dwarfism
Who are the top Acromesomelic Dysplasia Local Doctors?
Elite in Acromesomelic Dysplasia
Dr. Nancy E. Braverman
Pediatrics | Medical Genetics
Elite in Acromesomelic Dysplasia
Dr. Nancy E. Braverman
Pediatrics | Medical Genetics
601 N Caroline St, 
Baltimore, MD 
410-955-3071
Languages Spoken:
English

Nancy Braverman is a Pediatrics specialist and a Medical Genetics provider in Baltimore, Maryland. Dr. Braverman and is rated as an Elite provider by MediFind in the treatment of Acromesomelic Dysplasia. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

Elite in Acromesomelic Dysplasia
Valerie Daire-Cormier
Elite in Acromesomelic Dysplasia
Valerie Daire-Cormier
Paris, FR 

Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier and is rated as an Elite expert by MediFind in the treatment of Acromesomelic Dysplasia. Her top areas of expertise are Myhre Syndrome, Achondroplasia, Polydactyly, Brachydactyly Mononen Type, and Adenoidectomy.

 
 
 
 
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Elite in Acromesomelic Dysplasia
Genevieve Baujat
Elite in Acromesomelic Dysplasia
Genevieve Baujat
Paris, FR 

Genevieve Baujat practices in Paris, France. Ms. Baujat and is rated as an Elite expert by MediFind in the treatment of Acromesomelic Dysplasia. Her top areas of expertise are Fibrodysplasia Ossificans Progressiva, Brachydactyly Mononen Type, Acromicric Dysplasia, Acromesomelic Dysplasia Campailla Martinelli Type, and Adenoidectomy.

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What are the latest Acromesomelic Dysplasia Clinical Trials?
Rhizomelic Chondrodysplasia Punctata Registry At Nemours Children's Health
Rhizomelic Chondrodysplasia Punctata Registry At Nemours Children's Health
Enrollment Status: Recruiting
Publish Date: October 01, 2024

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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Who are the sources who wrote this article ?

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