Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Knipe H, Murphy A, et al. Short rib polydactyly syndrome. Reference article, Radiopaedia.org (Accessed on 15 Mar 2025) https://doi.org/10.53347/rID-13709
Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present:
There may also be other very rare types described, such as 9:
While there is some variation in the clinical spectrum, they can be collectively characterized by 2-3:
Genetics
Collectively, most cases carry an autosomal recessive inheritance.
Associations
Multiple anomalies of major organs are common 5. These include:
Treatment and prognosis
SRPSs are lethal anomalies and management is often supportive.
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5. Naki MM, Gür D, Zemheri E et-al. Short rib-polydactyly syndrome. Arch. Gynecol. Obstet. 2005;272 (2): 173-5. doi:10.1007/s00404-004-0696-9 - Pubmed citation
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6. Hentze S, Sergi C, Troeger J et-al. Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities. Am. J. Med. Genet. 1998;80 (3): 281-5. Am. J. Med. Genet. (link) - Pubmed citation
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7. Schumacher R, Seaver LH, Spranger J. Fetal Radiology, A Diagnostic Atlas. Springer Verlag. (2011) ISBN:3642035590. Read it at Google Books - Find it at Amazon
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10. Lavanya R, Pratap K. Short rib polydactyly syndrome--a rare skeletal dysplasia. Int J Gynaecol Obstet. 1995;50 (3): 291-2. Int J Gynaecol Obstet (link) - Pubmed citation
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