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

 

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 24 free, full-text research articles on human participants. First 3 results:

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
 

Author(s): Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2018 Feb;57(1):123-127.

 

We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3).

Last Updated: 31 Dec 1969

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Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.
 

Author(s): Shu-Han You, Yun-Shien Lee, Chueh-Pai Lee, Chih-Peng Lin, Chiao-Yun Lin, Chia-Lung Tsai, Yao-Lung Chang, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang

Journal: Taiwan J Obstet Gynecol. 2017 Dec;56(6):857-862.

 

Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents.

Last Updated: 31 Dec 1969

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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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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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