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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
Paris, FR 

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

Advanced in Opsismodysplasia
Advanced in Opsismodysplasia

Loyola University Medical Center

2160 S 1st Ave, 
Maywood, IL 
Languages Spoken:
English
Accepting New Patients

Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Opsismodysplasia. Her top areas of expertise are Syndactyly Type 2, Polydactyly, Syndactyly Type 1, and Syndactyly. Dr. Fishman is currently accepting new patients.

 
 
 
 
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Advanced in Opsismodysplasia
Pediatric Orthopedics | Orthopedics
Advanced in Opsismodysplasia
Pediatric Orthopedics | Orthopedics
1 Childrens Pl, Ste 1b, 
Saint Louis, MO 
Languages Spoken:
English
Accepting New Patients

Mark Miller is a Pediatric Orthopedics specialist and an Orthopedics provider in Saint Louis, Missouri. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Opsismodysplasia. His top areas of expertise are Claw Foot, Clubfoot, Congenital Femoral Deficiency, Osteotomy, and Tissue Biopsy. Dr. Miller is currently accepting new patients.

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