Acromesomelic Dysplasia
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Acromesomelic Dysplasia Overview

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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. Michael B. Bober
Medical Genetics
Elite in Acromesomelic Dysplasia
Dr. Michael B. Bober
Medical Genetics
Referral may be required

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
800-416-4441
Languages Spoken:
English
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Accepting New Patients

Michael Bober is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Acromesomelic Dysplasia. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics. Dr. Bober is currently accepting new patients.

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

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Acromesomelic Dysplasia. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Acromesomelic Dysplasia, Achondrogenesis, and Acromesomelic Dysplasia Campailla Martinelli Type.

 
 
 
 
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Elite in Acromesomelic Dysplasia
Dr. Wedad Fallatah
Medical Genetics
Elite in Acromesomelic Dysplasia
Dr. Wedad Fallatah
Medical Genetics
Referral may be required
707 N Broadway Ste 500, 
Baltimore, MD 
443-923-2999
Languages Spoken:
English

Wedad Fallatah is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Fallatah is rated as an Elite provider by MediFind in the treatment of Acromesomelic Dysplasia. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia.

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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: August 07, 2026

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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A Phase 1/2 Open-label First-in-Human Dose-Escalating Safety and Efficacy Study Evaluating Subcutaneous Administration of PTH-IA in Adults and Children With Jansen s Metaphyseal Chondrodysplasia (JMC)
A Phase 1/2 Open-label First-in-Human Dose-Escalating Safety and Efficacy Study Evaluating Subcutaneous Administration of PTH-IA in Adults and Children With Jansen s Metaphyseal Chondrodysplasia (JMC)
Enrollment Status: Recruiting
Publish Date: August 06, 2026
Intervention Type: Drug
Study Phase: Phase 1/Phase 2

Summary: Jansen s Metaphyseal Chondrodysplasia (JMC) is a very rare disorder with only approximately 30 people known to have the disease worldwide. It is caused by parathyroid hormone 1 receptor (PTH1R) variants leading to constitutive activation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP). PTH1R is predominantly expressed in the kidneys and bone and growth...

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