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Spondylocostal dysostosis 1, autosomal recessive(SCDO1)

MedGen UID:
834049
Concept ID:
CN032975
Disease or Syndrome
Synonyms: DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive; SCDO1
 
Genes (locations): DLL3 (19q13.2); MESP2 (15q26.1)
 
Monarch Initiative: MONDO:0020692
OMIM®: 277300

Disease characteristics

Excerpted from the GeneReview: Spondylocostal Dysostosis, Autosomal Recessive
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia. [from GeneReviews]
Authors:
Peter D Turnpenny  |  Melissa Sloman  |  Sally Dunwoodie   view full author information

Additional descriptions

From OMIM
The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). Genetic Heterogeneity of Spondylocostal Dysostosis Other forms of SCDO include SCDO2 (608681), caused by mutation in the MESP2 gene (605195) on chromosome 15q26; SCDO3 (609813), caused by mutation in the LFNG gene (602576) on chromosome 7p22; SCDO4 (613686), caused by mutation in the HES7 gene (608059) on chromosome 17p13; SCDO5 (122600), caused by mutation in the TBX6 gene (602427) on chromosome 16p11; and SCDO6 (616566), caused by mutation in the RIPPLY2 gene (609891) on chromosome 6q14.  http://www.omim.org/entry/277300
From MedlinePlus Genetics
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.

Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin syndrome; however, they are now considered distinct conditions.

The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis.

Some people with spondylocostal dysostosis also have a type of birth defect known as a neural tube defect. Neural tube defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in people with spondylocostal dysostosis include a spinal cord abnormality known as spina bifida and a brain abnormality called a Chiari malformation.

Although breathing problems can be fatal early in life, many affected individuals live into adulthood.  https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis

Professional guidelines

PubMed

Cowley N, Maheshwari M, Lerner DG, Lew S, Lal D, Knezevich M, Lingongo M, Gourlay D
J Surg Res 2022 Nov;279:193-199. Epub 2022 Jun 29 doi: 10.1016/j.jss.2022.06.004. PMID: 35779449
Tsukahara K, Mayer OH
Paediatr Respir Rev 2022 Dec;44:78-84. Epub 2022 Mar 7 doi: 10.1016/j.prrv.2022.02.003. PMID: 35339395Free PMC Article
Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647

Recent clinical studies

Etiology

Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Tsukahara K, Mayer OH
Paediatr Respir Rev 2022 Dec;44:78-84. Epub 2022 Mar 7 doi: 10.1016/j.prrv.2022.02.003. PMID: 35339395Free PMC Article
Heiskanen S, Syvänen J, Helenius I, Kemppainen T, Löyttyniemi E, Gissler M, Raitio A
J Pediatr Orthop 2022 May-Jun 01;42(5):e538-e543. doi: 10.1097/BPO.0000000000002124. PMID: 35297389
Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S
J Med Genet 2019 Sep;56(9):622-628. Epub 2019 Apr 22 doi: 10.1136/jmedgenet-2018-105920. PMID: 31015262
Teli M, Hosalkar H, Gill I, Noordeen H
Spine (Phila Pa 1976) 2004 Jul 1;29(13):1447-51. doi: 10.1097/01.brs.0000128761.72844.ab. PMID: 15223937

Diagnosis

Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM
Hum Mol Genet 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. PMID: 35861666Free PMC Article
Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere JB, Petit F, Pierquin G, Demeer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J
Clin Genet 2017 Jun;91(6):908-912. Epub 2017 Feb 22 doi: 10.1111/cge.12918. PMID: 27861764
Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647
Teli M, Hosalkar H, Gill I, Noordeen H
Spine (Phila Pa 1976) 2004 Jul 1;29(13):1447-51. doi: 10.1097/01.brs.0000128761.72844.ab. PMID: 15223937
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. PMID: 14631208

Therapy

Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Yamada S, Furuse Y, Ikeda M, Onda T, Cho K
Pediatr Int 2020 Nov;62(11):1289-1290. Epub 2020 Oct 22 doi: 10.1111/ped.14317. PMID: 33089894
Kwan KYH, Cheung JPY, Yiu KKL, Cheung KMC
Eur Spine J 2018 Jul;27(Suppl 3):287-291. Epub 2017 Jun 12 doi: 10.1007/s00586-017-5164-x. PMID: 28608177
Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL
Am J Med Genet A 2013 Sep;161A(9):2244-9. Epub 2013 Jul 29 doi: 10.1002/ajmg.a.36073. PMID: 23897666
Betz RR, Mulcahey MJ, Ramirez N, Flynn JM, Smith JT, St Hilaire T, Campbell RM
J Pediatr Orthop 2008 Dec;28(8):850-3. doi: 10.1097/BPO.0b013e31818e19a4. PMID: 19034177

Prognosis

Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S
J Med Genet 2019 Sep;56(9):622-628. Epub 2019 Apr 22 doi: 10.1136/jmedgenet-2018-105920. PMID: 31015262
Nagasawa H, Koyama T, Sasai H, Kohno Y, Yamamoto Y, Kondo M, Sugawara M, Terazawa D, Miura R
Congenit Anom (Kyoto) 2014 Aug;54(3):189-92. doi: 10.1111/cga.12052. PMID: 24666313
Teli M, Hosalkar H, Gill I, Noordeen H
Spine (Phila Pa 1976) 2004 Jul 1;29(13):1447-51. doi: 10.1097/01.brs.0000128761.72844.ab. PMID: 15223937
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. PMID: 14631208

Clinical prediction guides

Matsuda M, Yamanaka Y, Uemura M, Osawa M, Saito MK, Nagahashi A, Nishio M, Guo L, Ikegawa S, Sakurai S, Kihara S, Maurissen TL, Nakamura M, Matsumoto T, Yoshitomi H, Ikeya M, Kawakami N, Yamamoto T, Woltjen K, Ebisuya M, Toguchida J, Alev C
Nature 2020 Apr;580(7801):124-129. Epub 2020 Apr 1 doi: 10.1038/s41586-020-2144-9. PMID: 32238941
Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S
J Med Genet 2019 Sep;56(9):622-628. Epub 2019 Apr 22 doi: 10.1136/jmedgenet-2018-105920. PMID: 31015262
Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere JB, Petit F, Pierquin G, Demeer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J
Clin Genet 2017 Jun;91(6):908-912. Epub 2017 Feb 22 doi: 10.1111/cge.12918. PMID: 27861764
Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M
Eur J Med Genet 2015 Sep;58(9):455-65. Epub 2015 Jul 20 doi: 10.1016/j.ejmg.2015.07.003. PMID: 26206081
van Aalst J, Vles JS, Cuppen I, Sival DA, Niks EH, Van Rhijn LW, Van Steensel MA, Cornips EM
Childs Nerv Syst 2013 Jul;29(7):1051-8. doi: 10.1007/s00381-013-2057-0. PMID: 23443469

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