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Short rib dysplasia

MedGen UID:
609403
•Concept ID:
C0432195
•
Congenital Abnormality
Synonyms: ciliopathies with major skeletal involvement; Ciliopathies with major skeletal involvement; short rib dysplasia; Short rib syndrome; short-rib dysplasia (with or without polydactyly); SRP
SNOMED CT: Short rib syndrome (254050009); Short rib dysplasia (254050009)
 
Monarch Initiative: MONDO:0019691
Orphanet: ORPHA93426

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort rib dysplasia
Follow this link to review classifications for Short rib dysplasia in Orphanet.

Professional guidelines

PubMed

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Fassad MR, Rumman N, Junger K, Patel MP, Thompson J, Goggin P, Ueffing M, Beyer T, Boldt K, Lucas JS, Mitchison HM
Hum Mol Genet 2023 Oct 17;32(21):3090-3104. doi: 10.1093/hmg/ddad132. PMID: 37555648Free PMC Article
The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469

Recent clinical studies

Etiology

Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography.
Yamada T, Nishimura G, Nishida K, Sawai H, Omatsu T, Kimura T, Nishihara H, Shono R, Shimada S, Morikawa M, Mizushima M, Yamada T, Cho K, Tanaka S, Shirato H, Minakami H
J Obstet Gynaecol Res 2011 Feb;37(2):151-5. Epub 2010 Dec 16 doi: 10.1111/j.1447-0756.2010.01324.x. PMID: 21159031
Spectrum of severe skeletal dysplasias in North India.
Puri RD, Thakur S, Verma IC
Indian J Pediatr 2007 Nov;74(11):995-1002. doi: 10.1007/s12098-007-0183-y. PMID: 18057679
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH
Eur J Hum Genet 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507. PMID: 10951528
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP
Am J Med Genet 1995 Nov 20;59(3):359-64. doi: 10.1002/ajmg.1320590316. PMID: 8599362

Diagnosis

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P
Cesk Patol 2023 Summer;59(2):68-79. PMID: 37468326
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP
Int J Mol Sci 2022 Aug 17;23(16) doi: 10.3390/ijms23169234. PMID: 36012502Free PMC Article
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography.
Yamada T, Nishimura G, Nishida K, Sawai H, Omatsu T, Kimura T, Nishihara H, Shono R, Shimada S, Morikawa M, Mizushima M, Yamada T, Cho K, Tanaka S, Shirato H, Minakami H
J Obstet Gynaecol Res 2011 Feb;37(2):151-5. Epub 2010 Dec 16 doi: 10.1111/j.1447-0756.2010.01324.x. PMID: 21159031
Spectrum of severe skeletal dysplasias in North India.
Puri RD, Thakur S, Verma IC
Indian J Pediatr 2007 Nov;74(11):995-1002. doi: 10.1007/s12098-007-0183-y. PMID: 18057679
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
Tongsong T, Chanprapaph P
J Clin Ultrasound 2000 Jan;28(1):38-41. doi: 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z. PMID: 10602104

Prognosis

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP
Int J Mol Sci 2022 Aug 17;23(16) doi: 10.3390/ijms23169234. PMID: 36012502Free PMC Article
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
Tongsong T, Chanprapaph P
J Clin Ultrasound 2000 Jan;28(1):38-41. doi: 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z. PMID: 10602104
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP
Am J Med Genet 1995 Nov 20;59(3):359-64. doi: 10.1002/ajmg.1320590316. PMID: 8599362

Clinical prediction guides

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP
Int J Mol Sci 2022 Aug 17;23(16) doi: 10.3390/ijms23169234. PMID: 36012502Free PMC Article

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