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Autosomal dominant spondylocostal dysostosis

MedGen UID:
902919
•Concept ID:
C4274761
•
Disease or Syndrome
Synonyms: autosomal dominant spondylocostal dysostosis; Autosomal dominant spondylocostal dysplasia; autosomal dominant spondylocostal dysplasia; spondylocostal dysostosis, autosomal dominant
SNOMED CT: Autosomal dominant spondylocostal dysostosis (716232002); Autosomal dominant spondylocostal dysplasia (716232002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015826
Orphanet: ORPHA1797

Definition

A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant spondylocostal dysostosis

Professional guidelines

PubMed

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B
Am J Med Genet A 2021 Jul;185(7):2108-2118. Epub 2021 Apr 28 doi: 10.1002/ajmg.a.62236. PMID: 33908178
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.
Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2006 Dec;28(7):911-7. doi: 10.1002/uog.3856. PMID: 17094077

Recent clinical studies

Etiology

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S
Hum Mutat 2017 Mar;38(3):317-323. Epub 2017 Jan 18 doi: 10.1002/humu.23168. PMID: 28054739
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD
Am J Med Genet A 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471. PMID: 20503311
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.
Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2006 Dec;28(7):911-7. doi: 10.1002/uog.3856. PMID: 17094077
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
Jarcho-Levin syndrome: four new cases and classification of subtypes.
Karnes PS, Day D, Berry SA, Pierpont ME
Am J Med Genet 1991 Sep 1;40(3):264-70. doi: 10.1002/ajmg.1320400304. PMID: 1951427

Diagnosis

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
Panigrahi I, Angurana SK, Varma H, Peyam Pandurangam S, Williams V, Thappa S, Kaur A, Khandelwal N
Clin Dysmorphol 2019 Jul;28(3):103-113. doi: 10.1097/MCD.0000000000000269. PMID: 30921094
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S
Hum Mutat 2017 Mar;38(3):317-323. Epub 2017 Jan 18 doi: 10.1002/humu.23168. PMID: 28054739
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.
Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2006 Dec;28(7):911-7. doi: 10.1002/uog.3856. PMID: 17094077
Jarcho-Levin syndrome: four new cases and classification of subtypes.
Karnes PS, Day D, Berry SA, Pierpont ME
Am J Med Genet 1991 Sep 1;40(3):264-70. doi: 10.1002/ajmg.1320400304. PMID: 1951427
Spondylocostal dysostosis: dominant type.
Lorenz P, Rupprecht E
Am J Med Genet 1990 Feb;35(2):219-21. doi: 10.1002/ajmg.1320350215. PMID: 2309760

Therapy

Spondylocostal dysostosis associated with methylmalonic aciduria.
Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA
Genet Test Mol Biomarkers 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069. PMID: 19371216

Prognosis

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. PMID: 12746394Free PMC Article
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
Jarcho-Levin syndrome: four new cases and classification of subtypes.
Karnes PS, Day D, Berry SA, Pierpont ME
Am J Med Genet 1991 Sep 1;40(3):264-70. doi: 10.1002/ajmg.1320400304. PMID: 1951427

Clinical prediction guides

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. PMID: 12746394Free PMC Article
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S
Am J Hum Genet 1999 Jul;65(1):175-82. doi: 10.1086/302464. PMID: 10364530Free PMC Article
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
Mortier GR, Lachman RS, Bocian M, Rimoin DL
Am J Med Genet 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. PMID: 8834041

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