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Spondylocostal dysostosis 3(SCDO3)

MedGen UID:
377871
Concept ID:
C1853296
Disease or Syndrome
Synonyms: LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive; SCDO3; SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; Spondylocostal Dysostosis, Autosomal Recessive
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)
 
Gene (location): LFNG (7p22.3)
OMIM®: 609813

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; and 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]
Authors:
Peter D Turnpenny  |  Elizabeth Young  |    view full author information

Additional description

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

Clinical features

Slender finger
MedGen UID:
387832
Concept ID:
C1857482
Finding
Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Slender finger
MedGen UID:
387832
Concept ID:
C1857482
Finding
Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Supernumerary vertebral ossification centers
MedGen UID:
500977
Concept ID:
CN004076
Finding
Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.

Recent clinical studies

Etiology

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
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
Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD
Clin Genet 2004 Jul;66(1):67-72. doi: 10.1111/j.0009-9163.2004.00272.x. PMID: 15200511
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

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
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
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
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
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

Therapy

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

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
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
Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D
Indian J Pediatr 2006 Mar;73(3):245-7. PMID: 16567923
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. PMID: 12746394Free PMC Article
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114

Clinical prediction guides

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
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. PMID: 12746394Free PMC Article
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
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
Satar M, Kozanoglu MN, Atilla E
Clin Genet 1992 Jun;41(6):290-2. PMID: 1623623

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