Opsismodysplasia

Common Name(s)

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 mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Opsismodysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Opsismodysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
 

Author(s): Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G Santos, Stavit A Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Journal: Am. J. Hum. Genet.. 2013 Jan;92(1):144-9.

 

Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal ...

Last Updated: 14 Jan 2013

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
 

Author(s): Jennifer E Below, Dawn L Earl, Kathryn M Shively, Margaret J McMillin, Joshua D Smith, Emily H Turner, Mark J Stephan, Lihadh I Al-Gazali, Jozef L Hertecant, David Chitayat, Sheila Unger, Daniel H Cohn, Deborah Krakow, James M Swanson, Elaine M Faustman, Jay Shendure, Deborah A Nickerson, Michael J Bamshad,

Journal: Am. J. Hum. Genet.. 2013 Jan;92(1):137-43.

 

Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations ...

Last Updated: 14 Jan 2013

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Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.
 

Author(s): V Cormier-Daire, A L Delezoide, N Philip, P Marcorelles, K Casas, Y Hillion, L Faivre, D L Rimoin, A Munnich, P Maroteaux, M Le Merrer

Journal: J. Med. Genet.. 2003 Mar;40(3):195-200.

 

Last Updated: 7 Mar 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Opsismodysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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