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Spondylocostal dysostosis 6, autosomal recessive(SCDO6)

MedGen UID:
899713
Concept ID:
C4225279
Disease or Syndrome
Synonym: SCDO6
 
Gene (location): RIPPLY2 (6q14.2)
 
Monarch Initiative: MONDO:0014694
OMIM®: 616566

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

Additional description

From MedlinePlus Genetics
Although breathing problems can be fatal early in life, many affected individuals live into adulthood.

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.

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.

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.

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.  https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis

Clinical features

From HPO
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Cervical kyphosis
MedGen UID:
107898
Concept ID:
C0575170
Finding
Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
Spinal canal stenosis
MedGen UID:
396107
Concept ID:
C1861329
Anatomical Abnormality
An abnormal narrowing of the spinal canal.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.

Recent clinical studies

Etiology

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD
Am J Med Genet A 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471. PMID: 20503311
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
Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B
Am J Med Genet A 2004 Jul 15;128A(2):120-6. doi: 10.1002/ajmg.a.30011. PMID: 15214000
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

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
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O
Am J Hum Genet 2008 Jun;82(6):1334-41. Epub 2008 May 15 doi: 10.1016/j.ajhg.2008.04.014. PMID: 18485326Free PMC Article
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
Gilbert-Barness E, Oostra RJ, Agarwal A, Zhou H, Opitz JM
Fetal Pediatr Pathol 2005 Nov-Dec;24(6):331-45. doi: 10.1080/15227950500503744. PMID: 16761562
Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B
Am J Med Genet A 2004 Jul 15;128A(2):120-6. doi: 10.1002/ajmg.a.30011. PMID: 15214000

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

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
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
Satar M, Kozanoglu MN, Atilla E
Clin Genet 1992 Jun;41(6):290-2. doi: 10.1111/j.1399-0004.1992.tb03399.x. PMID: 1623623

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