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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).
Autosomal recessive inheritance (Orphanet)
 
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

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
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
Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.
Horigome H, Hamada H, Sohda S, Oyake Y, Kurosaki Y
Pediatr Radiol 1997 Dec;27(12):942-4. doi: 10.1007/s002470050277. PMID: 9388288
Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities.
Meizner I, Bar-Ziv J, Insler V
Isr J Med Sci 1986 May;22(5):350-4. PMID: 3528048

Recent clinical studies

Etiology

Ciliary Dyneins and Dynein Related Ciliopathies.
Antony D, Brunner HG, Schmidts M
Cells 2021 Jul 25;10(8) doi: 10.3390/cells10081885. PMID: 34440654Free PMC Article
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
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
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
Cabaud O, Roubin R, Comte A, Bascunana V, Sergé A, Sedjaï F, Birnbaum D, Rosnet O, Acquaviva C
Hum Mol Genet 2018 Oct 1;27(19):3377-3391. doi: 10.1093/hmg/ddy246. PMID: 29982567
Recurrent short rib polydactyly syndrome.
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
Ellis-van Creveld syndrome.
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

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
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
Recurrent short rib polydactyly syndrome.
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
Educational paper: ciliopathies.
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
Ellis-van Creveld syndrome.
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
Short rib-polydactyly syndrome.
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

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
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
Autopsy observations in lethal short-rib polydactyly syndromes.
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
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
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
Ellis-van Creveld syndrome.
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
Short rib-polydactyly syndrome.
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

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
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
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
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
Autopsy observations in lethal short-rib polydactyly syndromes.
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
Ellis-van Creveld syndrome.
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
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.
Lurie IW
Am J Med Genet 1994 May 1;50(4):313-7. doi: 10.1002/ajmg.1320500403. PMID: 8209908

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