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
Medical Genetics | Pediatrics
Elite in Acromesomelic Dysplasia
Dr. Nancy E. Braverman
Medical Genetics | Pediatrics
601 N Caroline St, 
Baltimore, MD 
410-955-3071
Languages Spoken:
English

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman 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
Dr. Michael B. Bober
Medical Genetics | Pediatrics
Elite in Acromesomelic Dysplasia
Dr. Michael B. Bober
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
302-651-4000
Languages Spoken:
English
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Accepting New Patients

Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Acromesomelic Dysplasia. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

 
 
 
 
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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 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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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: July 11, 2025

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