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Spondylocostal dysostosis 2, autosomal recessive(SCDO2)

MedGen UID:
332481
Concept ID:
C1837549
Disease or Syndrome
Synonyms: MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive; Spondylocostal dysostosis type 2; Spondylothoracic Dysostosis
 
Gene (location): MESP2 (15q26.1)
 
Monarch Initiative: MONDO:0012097
OMIM®: 608681

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 descriptions

From OMIM
Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300).  http://www.omim.org/entry/608681
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 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.

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

Clinical features

From HPO
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Vertebral clefting
MedGen UID:
344586
Concept ID:
C1855828
Finding
Schisis (cleft or cleavage) of vertebral bodies.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.

Recent clinical studies

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

Therapy

Yamada S, Furuse Y, Ikeda M, Onda T, Cho K
Pediatr Int 2020 Nov;62(11):1289-1290. Epub 2020 Oct 22 doi: 10.1111/ped.14317. PMID: 33089894
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

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

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