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Short rib-polydactyly syndrome

MedGen UID:
11412
Concept ID:
C0036996
Disease or Syndrome
Synonyms: Short Rib Polydactyly Syndrome; Short Rib-Polydactyly Syndrome; Short Rib-Polydactyly Syndromes
SNOMED CT: Short rib polydactyly syndrome (205484001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0015461
Orphanet: ORPHA1505

Definition

A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). [from ORDO]

Professional guidelines

PubMed

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Horigome H, Hamada H, Sohda S, Oyake Y, Kurosaki Y
Pediatr Radiol 1997 Dec;27(12):942-4. doi: 10.1007/s002470050277. PMID: 9388288
Meizner I, Bar-Ziv J, Insler V
Isr J Med Sci 1986 May;22(5):350-4. PMID: 3528048

Recent clinical studies

Etiology

Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Antony D, Brunner HG, Schmidts M
Cells 2021 Jul 25;10(8) doi: 10.3390/cells10081885. PMID: 34440654Free PMC Article
Okiro P, Wainwright H, Spranger J, Beighton P
Pediatr Dev Pathol 2015 Jan-Feb;18(1):40-8. Epub 2014 Dec 1 doi: 10.2350/14-05-1496-OA.1. PMID: 25437139
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A
J Obstet Gynaecol 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. PMID: 23259870
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article

Diagnosis

Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A
J Obstet Gynaecol 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. PMID: 23259870
Bergmann C
Eur J Pediatr 2012 Sep;171(9):1285-300. Epub 2011 Sep 7 doi: 10.1007/s00431-011-1553-z. PMID: 21898032Free PMC Article
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R
Arch Gynecol Obstet 2005 Jul;272(2):173-5. Epub 2004 Dec 17 doi: 10.1007/s00404-004-0696-9. PMID: 15605271

Prognosis

Cheng C, Li X, Zhao S, Feng Q, Ren X, Chen X
BMC Med Genomics 2022 Mar 12;15(1):55. doi: 10.1186/s12920-022-01205-z. PMID: 35277174Free PMC Article
Okiro P, Wainwright H, Spranger J, Beighton P
Pediatr Dev Pathol 2015 Jan-Feb;18(1):40-8. Epub 2014 Dec 1 doi: 10.2350/14-05-1496-OA.1. PMID: 25437139
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C
Am J Hum Genet 2013 Sep 5;93(3):515-23. Epub 2013 Aug 1 doi: 10.1016/j.ajhg.2013.06.022. PMID: 23910462Free PMC Article
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R
Arch Gynecol Obstet 2005 Jul;272(2):173-5. Epub 2004 Dec 17 doi: 10.1007/s00404-004-0696-9. PMID: 15605271

Clinical prediction guides

Cheng C, Li X, Zhao S, Feng Q, Ren X, Chen X
BMC Med Genomics 2022 Mar 12;15(1):55. doi: 10.1186/s12920-022-01205-z. PMID: 35277174Free PMC Article
Xia CL, Xiao SQ, Yang X, Liu CX, Qiu H, Jiang HK, Li-Ling J, Lyu Y
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12065. PMID: 33846808
Okiro P, Wainwright H, Spranger J, Beighton P
Pediatr Dev Pathol 2015 Jan-Feb;18(1):40-8. Epub 2014 Dec 1 doi: 10.2350/14-05-1496-OA.1. PMID: 25437139
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
Sillence DO
Am J Med Genet 1980;7(2):223-9. doi: 10.1002/ajmg.1320070215. PMID: 7468650

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