Jarcho-Levin syndrome

Jarcho-Levin Syndrome is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. cite journal
author = Jarcho, S.
coauthors = Levin, P.M.
year = 1938
title = Hereditary malformation of the vertebral bodies
journal = Bull Johns Hopkins Hosp
volume = 62
pages = 216–226]

While clinicians almost unanimously refer to the syndrome as "Jarcho-Levin", reports have variously labelled or referred to the condition as all of the following: Hereditary malformations of the vertebral bodies,cite journal
author = Jarcho, S.
coauthors = Levin, P.M.
year = 1938
title = Hereditary malformation of the vertebral bodies
journal = Bull Johns Hopkins Hosp
volume = 62
pages = 216–226] hereditary multiple hemivertebrae,cite journal
author = Van Der Sar, A.
year = 1952
title = Hereditary Multiple Hemivertebrae
journal = Documenta de Medicina Geographica et Tropica] syndrome of bizarre vertebral anomalies,cite journal
author = Lavy, N.W.
coauthors = Palmer, C.G.; Merritt, A.D.
year = 1966
title = A syndrome of bizarre vertebral anomalies.
journal = J Pediatr
volume = 69
issue = 6
pages = 1121–5
doi = 10.1016/S0022-3476(66)80304-9] spondylocostal dysplasia,cite journal
author = Rimoin, D.L.
coauthors = Fletcher, B.D.; McKusick, V.A.
year = 1968
title = Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
journal = Am J Med
volume = 45
issue = 6
pages = 948–53
url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&uid=5722643&cmd=showdetailview&indexed=google
accessdate = 2007-12-15
doi = 10.1016/0002-9343(68)90193-9] spondylothoracic dysplasia,cite journal
author = Moseley, J.E.
coauthors = Bonforte, R.J.
year = 1969
title = Spondylothoracic Dysplasia--a Syndrome Of Congenital Anomalies
journal = American Journal of Roentgenology
volume = 106
issue = 1
pages = 166
url = http://www.ajronline.org/cgi/content/abstract/106/1/166
accessdate = 2007-12-15] costovertebral anomalies,cite journal
author = Norum, R.A.
coauthors = McKusick, V.A.
year = 1969
title = Costovertebral anomalies with apparent recessive inheritance
journal = Birth Defects OAS
volume = 18
pages = 326–329] costovertebral dysplasia,cite journal
author = Cantu, J.M.
coauthors = Urrusti, J.; Rosales, G.; Roms, A.
year = 1944
title = Evidence for autosomal recessive inheritance of costovertebral dysplasia
journal = Clinical Genetics
volume = 2
pages = 149–154] spondylothoracic dysplasia,cite journal
author = Castroviejo, I.P.
coauthors = Rodriguez-costa, T.; Castillo, F.
year = 1973
title = Spondylo-thoracic dysplasia in three sisters.
journal = Dev Med Child Neurol
volume = 15
issue = 3
pages = 348–54
url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&uid=4718686&cmd=showdetailview&indexed=google
accessdate = 2007-12-15] occipito-facial-cervico-thoracic-abdomino-digital dysplasiacite journal
author = Perez-comas, A.
coauthors = Garcia-castro, J.M.
year = 1974
title = Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.
journal = J Pediatr
volume = 85
issue = 3
pages = 388–91
url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&uid=4372555&cmd=showdetailview&indexed=google
accessdate = 2007-12-15
doi = 10.1016/S0022-3476(74)80126-5] (deemed "ridiculously long" and "unwarranted" by OMIM) [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300] , and spondylocostal dysostosis.cite journal
author = Franceschini, P.
coauthors = Grassi, E.; Fabris, C.; Bogetti, G.; Randaccio, M.
year = 1974
title = The autosomal recessive form of spondylocostal dysostosis.
journal = Radiology
volume = 112
issue = 3
pages = 673–5]

A closely related condition termed "Costovertebral segmentation defect with mesomelia and peculiar facies", or Covesdem syndrome, was first described in 1978 in India. cite journal
author = Wadia, R.S.
coauthors = Shirole, D.B.; Dikshit, M.S.
year = 1978
title = Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?
journal = British Medical Journal
volume = 15
issue = 2
pages = 123
url = http://jmg.bmj.com/cgi/content/abstract/15/2/123
accessdate = 2007-12-15
pmid = 641945]

Prognosis

Babies born with Jarcho-Levin may be very healthy and grow up to lead normal lives.cite journal
author = Cornier, A.S.
coauthors = Ramirez, N.; Arroyo, S.; Acevedo, J.; Garcia, L.; Carlo, S.; Korf, B.
year = 2004
title = Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
journal = American Journal of Medical Genetics
volume = 128
issue = 2
pages = 120–126
doi = 10.1002/ajmg.a.30011] However, many individuals with Jarcho-Levin suffer from problems of respiratory insufficiency secondary to volume-restricted thoraces. These individuals will often develop pulmonary complications and die in infancy or early childhood.cite journal
author = Jarcho, S.
coauthors = Levin, P.M.
year = 1938
title = Hereditary malformation of the vertebral bodies
journal = Bull Johns Hopkins Hosp
volume = 62
pages = 216–226] cite journal
author = Van Der Sar, A.
year = 1952
title = Hereditary Multiple Hemivertebrae
journal = Documenta de Medicina Geographica et Tropica] cite journal
author = Poor, M.A.
coauthors = Alberti, O.J.R.; Griscom, N.T.; Driscoll, S.G.; Holmes, L.B.
year = 1983
title = Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies
journal = The Journal of pediatrics
volume = 103
issue = 2
pages = 270–272
url = http://cat.inist.fr/?aModele=afficheN&cpsidt=9333544
accessdate = 2007-12-15
doi = 10.1016/S0022-3476(83)80365-5] cite journal
author = Karnes, P.S.
coauthors = Day, D.; Berry, S.A.; Pierpont, M.E.M.
year = 1991
title = Jarcho-Levin syndrome: four new cases and classification of subtypes
journal = American journal of medical genetics
volume = 40
issue = 3
pages = 264–270
url = http://cat.inist.fr/?aModele=afficheN&cpsidt=4977348
accessdate = 2007-12-15
doi = 10.1002/ajmg.1320400304] cite journal
author = Giacoia, G.P.
coauthors = Say, B.
year = 1991
title = Spondylocostal dysplasia and neural tube defects
journal = Journal of Medical Genetics
volume = 28
issue = 1
pages = 51
url = http://www.jmedgenet.com/cgi/content/abstract/28/1/51
accessdate = 2007-12-15
pmid = 1999834] The disparity in outcomes of those with the syndrome is related to the fact that Jarcho-Levin actually encompasses two or more distinct syndromes, each with its own range of prognoses. The syndromes currently recognized as subtypes of Jarcho-Levin are termed Spondylothoracic Dysplasia and Spondylocostal Dysostosis.

ubtypes and Characteristics

In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin.cite journal
author = Rimoin, D.L.
coauthors = Fletcher, B.D.; McKusick, V.A.
year = 1968
title = Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
journal = Am J Med
volume = 45
issue = 6
pages = 948–53
url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&uid=5722643&cmd=showdetailview&indexed=google
accessdate = 2007-12-15
doi = 10.1016/0002-9343(68)90193-9] Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family described in their article appeared to be inherited in a autosomal dominant fashion and had a less severe course than that reported by other investigators. They specified their condition as spondylocostal dysplasia, which has since become to be known as Spondylocostal Dysostosis. The subtype of Jarcho-Levin with which they contrasted their reported cases to is now known as Spondylothoracic Dysplasia.

pondylothoracic Dysplasia

Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax.cite journal
author = Lavy, N.W.
coauthors = Palmer, C.G.; Merritt, A.D.
year = 1966
title = A syndrome of bizarre vertebral anomalies.
journal = J Pediatr
volume = 69
issue = 6
pages = 1121–5
doi = 10.1016/S0022-3476(66)80304-9] cite journal
author = Moseley, J.E.
coauthors = Bonforte, R.J.
year = 1969
title = Spondylothoracic Dysplasia--a Syndrome Of Congenital Anomalies
journal = American Journal of Roentgenology
volume = 106
issue = 1
pages = 166
url = http://www.ajronline.org/cgi/content/abstract/106/1/166
accessdate = 2007-12-15] cite journal
author = Pochaczevsky, R.
coauthors = Ratner, H.; Perles, D.; Kassner, G.; Naysan, P.
year = 1971
title = Spondylothoracic dysplasia.
journal = Radiology
volume = 98
issue = 1
pages = 53–8] Recently, a reportcite journal
author = Cornier, A.S.
coauthors = Ramirez, N.; Arroyo, S.; Acevedo, J.; Garcia, L.; Carlo, S.; Korf, B.
year = 2004
title = Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
journal = American Journal of Medical Genetics
volume = 128
issue = 2
pages = 120–126
doi = 10.1002/ajmg.a.30011] has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives.

pondylocostal Dysostosis

In contrast to STD, the subtype Spondylocostal dysostosis, or SCD features intrinsic rib anomalies, in addition to vertebral anomalies. Intrinsic rib anomalies include defects such as birfurcation, broadening and fusion that are not directly related to the vertebral anomalies (such as in STD, where extensive posterior rib fusion occurs due to segmentation defects and extreme shortening of the thoracic vertebral column).cite journal
author = Cornier, A.S.
coauthors = Ramirez, N.; Arroyo, S.; Acevedo, J.; Garcia, L.; Carlo, S.; Korf, B.
year = 2004
title = Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
journal = American Journal of Medical Genetics
volume = 128
issue = 2
pages = 120–126
doi = 10.1002/ajmg.a.30011]

References