Opsismodysplasia
Symptoms, Doctors, Treatments, Advances & More

Opsismodysplasia Overview

Save information for later
Sign Up

Learn About Opsismodysplasia

What is the definition of Opsismodysplasia?
Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with Opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by genetic changes in the INPPL1 the gene. It is inherited in an autosomal recessive manner.
What are the alternative names for Opsismodysplasia?
  • Opsismodysplasia
Who are the top Opsismodysplasia Local Doctors?
Elite in Opsismodysplasia
Elite in Opsismodysplasia
Referral may be required
Paris, FR 

Valerie Daire-Cormier practices practicing medicine in Paris, France. Ms. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Opsismodysplasia. She is also highly rated in 108 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.

Experienced in Opsismodysplasia
Dr. Mark A. Reed
Podiatric Surgery | Orthopedics
Experienced in Opsismodysplasia
Dr. Mark A. Reed
Podiatric Surgery | Orthopedics
Referral may be required
Before you request

Proliance Surgeons

5350 Tallman Ave NW, Ste 500, 
Seattle, WA 
206-784-8833
Languages Spoken:
English, Korean, Russian, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Mark Reed is a Podiatric Surgeon and an Orthopedics provider practicing medicine in Seattle, Washington. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Synovial Osteochondromatosis, Morton Neuroma, Tendinitis, and Freiberg's Disease. Dr. Reed is board certified in American Board Of Orthopaedic Surgery. Dr. Reed is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Opsismodysplasia
Dr. James Carroccio
Family Medicine
Experienced in Opsismodysplasia
Dr. James Carroccio
Family Medicine
Before you request

Office

6115 Emerald St, 
North Ridgeville, OH 
440-327-7372
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

James Carroccio is a primary care provider, practicing in Family Medicine in North Ridgeville, Ohio. Dr. Carroccio is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, Hypertension, and High Cholesterol. Dr. Carroccio is currently accepting new patients.

View All Doctors
What are the latest Opsismodysplasia Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

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