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Spondylocostal dysostosis(SCDO1)

MedGen UID:
82707
Concept ID:
C0265343
Disease or Syndrome
Synonyms: Costovertebral dysplasia; Jarcho-Levin syndrome; Spondylothoracic dysplasia
SNOMED CT: Jarcho-Levin syndrome (61367005); Spondylothoracic dysplasia (61367005); Autosomal recessive spondylocostal dysostosis (61367005)
 
Genes (locations): HES7 (17p13.1); LFNG (7p22.3); MESP2 (15q26.1)
Related genes: DLL3, TBX6
 
Monarch Initiative: MONDO:0000359
OMIM®: 277300; 602768
OMIM® Phenotypic series: PS277300

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 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
From MedlinePlus Genetics
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylothoracic 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 spondylothoracic 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) or belly-button (umbilical hernia).

Breathing problems can be fatal early in life; however, some affected individuals live into adulthood.

Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are sometimes referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.  https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis

Clinical features

From HPO
Back pain
MedGen UID:
2530
Concept ID:
C0004604
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the 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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Protuberant abdomen
MedGen UID:
340750
Concept ID:
C1854928
Finding
A thrusting or bulging out of the abdomen.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Block vertebrae
MedGen UID:
375498
Concept ID:
C1844753
Congenital Abnormality
Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
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.
Abnormal odontoid process morphology
MedGen UID:
351218
Concept ID:
C1864794
Anatomical Abnormality
Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.

Professional guidelines

PubMed

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

Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N
Am J Med Genet A 2022 Dec;188(12):3469-3481. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62972. PMID: 36161696Free PMC Article
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
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
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD
Am J Hum Genet 2004 Jun;74(6):1249-54. Epub 2004 Apr 30 doi: 10.1086/421053. PMID: 15122512Free PMC Article

Diagnosis

Gao Y, Fu Z, Guan J, Liu X, Zhang Q
Biochem Pharmacol 2023 Jan;207:115377. Epub 2022 Dec 10 doi: 10.1016/j.bcp.2022.115377. PMID: 36513140
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
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
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

Matsuo K, Taniguchi K, Hamamoto H, Inomata Y, Komura K, Tanaka T, Lee SW, Uchiyama K
Cancer Sci 2021 Aug;112(8):2984-2992. Epub 2021 Jun 30 doi: 10.1111/cas.15017. PMID: 34107132Free PMC Article
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
Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM
PLoS One 2015;10(2):e0117055. Epub 2015 Feb 6 doi: 10.1371/journal.pone.0117055. PMID: 25659135Free PMC Article
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
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

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
Yilmaz MB, Kaymak A, Kurt G, Percin FE, Baykaner K
Turk Neurosurg 2013;23(2):256-9. doi: 10.5137/1019-5149.JTN.4503-11.4. PMID: 23546915
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
Cirstoiu M, Munteanu O, Bodean O, Cirstoiu C
J Med Life 2013 Mar 15;6(1):93-6. Epub 2013 Mar 25 PMID: 23599829Free PMC Article
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
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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