Short Rib Polydactyly Syndrome

Common Name(s)

Short Rib Polydactyly Syndrome

Short Rib Polydactyly syndrome (SRPS) is a group of recessively inherited lethal skeletal dysplasia. Skeletal dysplasia is a complex group of bone and cartilage disorders that may affect the fetal skeleton as it develops, often resulting in dwarfism. SRPS is characterized by short limb dwarfism complicated by underdevelopment of the chest (thoracic hypoplasia), having extra fingers and/or toes (poldactyly), and different abnormalities of major organs, such as heart defects. There are four subtypes: SRPS I, SRPS II, SRPS III, SRPS IV.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Short Rib Polydactyly Syndrome" 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 "Short Rib Polydactyly Syndrome" returned 22 free, full-text research articles on human participants. First 3 results:

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
 

Author(s): Wenjuan Zhang, S Paige Taylor, Lisette Nevarez, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, , Deborah Krakow, Daniel H Cohn

Journal: Hum. Mol. Genet.. 2016 09;25(18):4012-4020.

 

The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization ...

Last Updated: 31 Dec 1969

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An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
 

Author(s): S Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, Lukas Balek, Tomas Barta, Lukas Trantirek, Iva Jelinkova, Ivan Duran, Iva Vesela, Kimberly N Forlenza, Jorge H Martin, Ales Hampl, , Michael Bamshad, Deborah Nickerson, Margie L Jaworski, Jieun Song, Hyuk Wan Ko, Daniel H Cohn, Deborah Krakow, Pavel Krejci

Journal: Hum. Mol. Genet.. 2016 09;25(18):3998-4011.

 

The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs, shortened long bones, varying types of polydactyly and concomitant visceral abnormalities. Mutations in several genes affecting ...

Last Updated: 31 Dec 1969

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Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
 

Author(s): L S Chen, S J Shi, P S Zou, M Ma, X H Chen, D H Cao

Journal:

 

Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before ...

Last Updated: 31 Dec 1969

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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 "Short Rib Polydactyly Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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