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Short-rib thoracic dysplasia without polydactyly

MedGen UID:
865809
•Concept ID:
C4017372
•
Finding
Synonym: SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
 
OMIM®: 614620

Professional guidelines

PubMed

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S
Mol Genet Genomic Med 2023 Mar;11(3):e2124. Epub 2022 Dec 20 doi: 10.1002/mgg3.2124. PMID: 36538006Free PMC Article
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
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Recent clinical studies

Etiology

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
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
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
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

The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.
Udupa P, Ghosh DK
Traffic 2024 Jan;25(1):e12929. doi: 10.1111/tra.12929. PMID: 38272449
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics, Lachman RS, Krakow D, Cohn DH
Hum Mutat 2018 Jan;39(1):152-166. Epub 2017 Nov 6 doi: 10.1002/humu.23362. PMID: 29068549Free 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
Asphyxiating thoracic dysplasia.
Vanhoenacker FM, Van de Perre S, de Jongh K, De Schepper AM
JBR-BTR 2004 Jan-Feb;87(1):50. PMID: 15055336

Prognosis

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S
Mol Genet Genomic Med 2023 Mar;11(3):e2124. Epub 2022 Dec 20 doi: 10.1002/mgg3.2124. PMID: 36538006Free PMC Article
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
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V
J Med Genet 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. PMID: 23339108
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 splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S
Mol Genet Genomic Med 2023 Mar;11(3):e2124. Epub 2022 Dec 20 doi: 10.1002/mgg3.2124. PMID: 36538006Free PMC Article
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F
Cold Spring Harb Mol Case Stud 2022 Dec;8(7) Epub 2022 Dec 28 doi: 10.1101/mcs.a006254. PMID: 36442996Free PMC Article
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
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free 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

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