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SCDO3
MCID: SPN297
MIFTS: 45
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Spondylocostal Dysostosis 3, Autosomal Recessive (SCDO3)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Spondylocostal Dysostosis 3, Autosomal Recessive:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
two patients have been independently reported (last curated february 2019) HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Bone diseases Respiratory diseases |
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NIH Rare Diseases
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54
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited, autosomal recessive or autosomal dominant . Some of the autosomal recessive types of spondylocostal dysostosis are called "Jarcho-Levin syndrome", a term that is more often used as a synonym for a similar condition known as "spondylothoracic dysostosis". Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
MalaCards based summary : Spondylocostal Dysostosis 3, Autosomal Recessive, also known as spondylocostal dysostosis, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 3, Autosomal Recessive is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Notch signaling pathway and Wnt / Hedgehog / Notch. Affiliated tissues include vertebrae or, bone and heart, and related phenotypes are scoliosis and vertebral segmentation defect Disease Ontology : 12 A dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. Genetics Home Reference : 26 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. UniProtKB/Swiss-Prot : 76 Spondylocostal dysostosis 3, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Wikipedia : 77 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...
Description from OMIM:
609813
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Human phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:609813MGI Mouse Phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:47
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The Foundational Model of Anatomy Ontology organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:20
Vertebrae Or
MalaCards organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:42
Bone,
Heart,
Spinal Cord,
Spleen
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Articles related to Spondylocostal Dysostosis 3, Autosomal Recessive:(show top 50) (show all 70)
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Genes related to Spondylocostal Dysostosis 3, Autosomal Recessive (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:76
ClinVar genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:6 (show all 14)
Copy number variations for Spondylocostal Dysostosis 3, Autosomal Recessive from CNVD:7
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Search
GEO
for disease gene expression data for Spondylocostal Dysostosis 3, Autosomal Recessive.
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Pathways related to Spondylocostal Dysostosis 3, Autosomal Recessive according to KEGG:38
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Biological processes related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:
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