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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).
 
Related genes: MESP2, HES7, DLL3, LFNG
 
Monarch Initiative: MONDO:0010180
Orphanet: ORPHA2311

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

Recent clinical studies

Etiology

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
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S
Prenat Diagn 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. PMID: 12868087

Diagnosis

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
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S
Prenat Diagn 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. PMID: 12868087
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

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

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

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
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
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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