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Autosomal recessive spondylocostal dysostosis

MedGen UID:
834047
•Concept ID:
CN043670
•
Disease or Syndrome
Synonyms: autosomal recessive spondylocostal dysostosis; costovertebral dysplasia; Jarcho-Levin syndrome; SCDO1; spondylocostal dysostosis 1, autosomal recessive; spondylocostal dysostosis, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: MESP2, HES7, DLL3, LFNG
 
Monarch Initiative: MONDO:0010180
Orphanet: ORPHA2311

Authors:

Recent clinical studies

Etiology

Mutated MESP2 causes spondylocostal dysostosis in humans.
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
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S
Prenat Diagn 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. PMID: 12868087

Diagnosis

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
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
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S
Prenat Diagn 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. PMID: 12868087
Familial Jarcho-Levin syndrome.
Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S, Mollica F
Clin Genet 1991 Apr;39(4):253-9. doi: 10.1111/j.1399-0004.1991.tb03023.x. PMID: 2070546

Therapy

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
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

Prognosis

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A
Clin Genet 2003 Jul;64(1):28-35. doi: 10.1034/j.1399-0004.2003.00085.x. PMID: 12791036

Clinical prediction guides

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
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
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A
Clin Genet 2003 Jul;64(1):28-35. doi: 10.1034/j.1399-0004.2003.00085.x. PMID: 12791036
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
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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