Format

Send to:

Choose Destination

Jarcho-Levin syndrome(SCDO1)

MedGen UID:
82707
Concept ID:
C0265343
Disease or Syndrome
Synonyms: Costovertebral dysplasia; SCDO1; Spondylocostal dysostosis; Spondylothoracic dysplasia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Jarcho-Levin syndrome (61367005); Spondylothoracic dysplasia (61367005)
 
Genes (locations): HES7 (17p13.1); LFNG (7p22.3); MESP2 (15q26.1)
Related genes: DLL3, TBX6
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 (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates 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; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Peter D Turnpenny  |  Melissa Sloman  |  Sally Dunwoodie, et. al.   view full author information

Additional description

From GHR
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://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis

Clinical features

Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Rib fusion
MedGen UID:
336769
Concept ID:
C1844749
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Block vertebrae
MedGen UID:
375498
Concept ID:
C1844753
Finding
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.
Abnormality of the odontoid process
MedGen UID:
351218
Concept ID:
C1864794
Finding
Abnormality of the dens of the axis, which is also known as the odontoid process.
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.

Recent clinical studies

Etiology

Alatas I, Canaz H, Akkoyun N, Er A, Demirhan O, Kizilay D, Emel E
Pediatr Neurosurg 2015;50(2):57-62. Epub 2015 Mar 17 doi: 10.1159/000380770. PMID: 25792257
Karlin JG, Roth MK, Patil V, Cordell D, Trevino H, Simmons J, Campbell RM, Joshi AP
J Bone Joint Surg Am 2014 Nov 5;96(21):e181. doi: 10.2106/JBJS.M.00185. PMID: 25378514
Basaran A, Deren O, Onderoğlu LS
Am J Perinatol 2010 Mar;27(3):189-92. Epub 2009 Jul 24 doi: 10.1055/s-0029-1234031. PMID: 19634089
Dane B, Dane C, Aksoy F, Cetin A, Yayla M
Fetal Diagn Ther 2007;22(6):416-9. Epub 2007 Jul 24 doi: 10.1159/000106345. PMID: 17652927
del Río Holgado M, Martínez JM, Gómez O, Casals G, Bargalló N, Fortuny A, Puerto B
Fetal Diagn Ther 2005 Mar-Apr;20(2):136-40. doi: 10.1159/000082438. PMID: 15692209

Diagnosis

Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP
Am J Case Rep 2016 Oct 14;17:745-748. PMID: 27739421Free PMC Article
Demir N, Peker E, Gülşen İ, Ağengin K, Kaba S, Tuncer O
J Child Neurol 2016 Mar;31(4):415-20. Epub 2015 Aug 3 doi: 10.1177/0883073815596614. PMID: 26239489
Martinez Santos JL, Dmytriw AA, Fermin S
BMJ Case Rep 2015 Jul 21;2015 doi: 10.1136/bcr-2015-210240. PMID: 26199296Free PMC Article
Singla V, Vijayalakshmi IB, Singh B, Narsimhan C
BMJ Case Rep 2014 Feb 13;2014 doi: 10.1136/bcr-2013-202323. PMID: 24526200Free PMC Article
Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA
Pediatr Radiol 2011 Mar;41(3):384-8. Epub 2010 Dec 22 doi: 10.1007/s00247-010-1928-8. PMID: 21174082

Therapy

Kaya C, Cebeci H
Bol Asoc Med P R 2016;108(2):17-20. PMID: 29164846
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
Inan N, Corapcioglu F, Akansel G, Yildiz K, Ozdamar AS, Mutlu A
Pediatr Hematol Oncol 2009 Oct-Nov;26(7):496-503. PMID: 19863205
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

Karlin JG, Roth MK, Patil V, Cordell D, Trevino H, Simmons J, Campbell RM, Joshi AP
J Bone Joint Surg Am 2014 Nov 5;96(21):e181. doi: 10.2106/JBJS.M.00185. PMID: 25378514
Onay OS, Kinik ST, Otgün Y, Arda IS, Varan B
Eur J Pediatr Surg 2008 Aug;18(4):272-4. Epub 2008 Jul 15 doi: 10.1055/s-2008-1038364. PMID: 18629769
Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D
Indian J Pediatr 2006 Mar;73(3):245-7. PMID: 16567923
Ables P
Neonatal Netw 2004 Sep-Oct;23(5):9-21. doi: 10.1891/0730-0832.23.5.9. PMID: 15490911
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. PMID: 14631208

Clinical prediction guides

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
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
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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center