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Spondylocostal dysostosis 5(SCDO5)

MedGen UID:
901825
Concept ID:
C4083048
Disease or Syndrome
Synonyms: Costovertebral segmentation anomalies; SCDO5; SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES
 
Gene (location): TBX6 (16p11.2)
 
Monarch Initiative: MONDO:0007389
OMIM®: 122600

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 description

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.

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.

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.

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

Clinical features

From HPO
Low back pain
MedGen UID:
7389
Concept ID:
C0024031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Syringomyelia
MedGen UID:
21449
Concept ID:
C0039144
Disease or Syndrome
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Supernumerary ribs
MedGen UID:
83380
Concept ID:
C0345397
Congenital Abnormality
The presence of more than 12 rib pairs.
Missing ribs
MedGen UID:
98093
Concept ID:
C0426816
Finding
A developmental anomaly with absence of one or more ribs.
Posterior rib fusion
MedGen UID:
330764
Concept ID:
C1842084
Finding
Complete or partial merging of the posterior part of adjacent ribs.
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.

Professional guidelines

PubMed

Ramirez N, Flynn JM, Emans JB, Betz R, Smith JT, Price N, St Hilaire T, Joshi AP, Campbell RM
J Pediatr Orthop 2010 Sep;30(6):521-6. doi: 10.1097/BPO.0b013e3181e78e6c. PMID: 20733413
Wax JR, Watson WJ, Miller RC, Ingardia CJ, Pinette MG, Cartin A, Grimes CK, Blackstone J
J Ultrasound Med 2008 Jul;27(7):1023-7. doi: 10.7863/jum.2008.27.7.1023. PMID: 18577665

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
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
Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S
Mol Genet Genomic Med 2018 Nov;6(6):966-974. Epub 2018 Sep 9 doi: 10.1002/mgg3.466. PMID: 30196550Free PMC Article
Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S
Spine (Phila Pa 1976) 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f. PMID: 16582839
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
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
Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S
Spine (Phila Pa 1976) 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f. PMID: 16582839
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
Tubbs RS, Wellons JC 3rd, Blount JP, Oakes WJ
Pediatr Neurosurg 2002 May;36(5):279. doi: 10.1159/000058435. PMID: 12053050

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
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

Prognosis

Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
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
Lemire GT, Beauregard-Lacroix É, Campeau PM, Parent S, Roy-Beaudry M, Soglio DD, Grignon A, Rypens F, Wavrant S, Laberge AM, Delrue MA
Am J Med Genet A 2020 Apr;182(4):664-672. Epub 2019 Dec 27 doi: 10.1002/ajmg.a.61468. PMID: 31880412
Ables P
Neonatal Netw 2004 Sep-Oct;23(5):9-21. doi: 10.1891/0730-0832.23.5.9. PMID: 15490911
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

Clinical prediction guides

Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
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
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
Sparrow DB, Chapman G, Dunwoodie SL
Mamm Genome 2011 Aug;22(7-8):362-76. Epub 2011 Jun 11 doi: 10.1007/s00335-011-9335-5. PMID: 21667129
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

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