Opsismodysplasia
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Opsismodysplasia Overview

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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 107 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.

Experienced in Opsismodysplasia
Experienced in Opsismodysplasia
Referral may be required

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5234
Languages Spoken:
English

Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.

 
 
 
 
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Experienced in Opsismodysplasia
Experienced in Opsismodysplasia
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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