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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

Shak C, Vuolo L, Uddin B, Katoh Y, Brown T, Mukhopadhyay AG, Heesom K, Roberts AJ, Stevenson N, Nakayama K, Stephens DJ
J Cell Sci 2023 Mar 1;136(5) Epub 2022 Nov 7 doi: 10.1242/jcs.260073. PMID: 36268591Free PMC Article
Antony D, Brunner HG, Schmidts M
Cells 2021 Jul 25;10(8) doi: 10.3390/cells10081885. PMID: 34440654Free PMC Article
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V
J Med Genet 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. PMID: 22499340
Chen CP
Taiwan J Obstet Gynecol 2008 Mar;47(1):1-9. doi: 10.1016/S1028-4559(08)60048-0. PMID: 18400576
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

Chen X, Wang X, Jiang C, Xu M, Liu Y, Qi R, Qi X, Sun X, Xie P, Liu Q, Yan B, Sheng X, Zhao C
Invest Ophthalmol Vis Sci 2018 Sep 4;59(11):4581-4589. doi: 10.1167/iovs.17-23351. PMID: 30242358
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
Keating SJ, Eyre DR, Pritzker KP
Mod Pathol 1989 Sep;2(5):427-32. PMID: 2813343

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
Smith C, Lamont RE, Wade A, Bernier FP, Parboosingh JS, Innes AM
Am J Med Genet A 2016 Mar;170(3):760-5. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37514. PMID: 26691894
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
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

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
Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D
F1000Res 2019;8:273. Epub 2019 Mar 11 doi: 10.12688/f1000research.17314.1. PMID: 31231513Free PMC Article
Smith C, Lamont RE, Wade A, Bernier FP, Parboosingh JS, Innes AM
Am J Med Genet A 2016 Mar;170(3):760-5. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37514. PMID: 26691894
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
Lurie IW
Am J Med Genet 1994 May 1;50(4):313-7. doi: 10.1002/ajmg.1320500403. PMID: 8209908

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