Spondylocostal Dysostosis 3, Autosomal Recessive (SCDO3)

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Disease Ontology 12 DOID:0050568 OMIM 56 609813 OMIM Phenotypic Series 56 PS277300 KEGG 36 H00517

MeSH 43 D004413 MedGen 41 C1853296 SNOMED-CT via HPO 68 111266001 205455005 237836003 258211005 414564002 64217002 more UMLS 71 C0265343 C1853296

Genetics Home Reference : ²⁵ 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.

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 PI3K-Akt signaling pathway. Affiliated tissues include vertebrae, ribs and bone, and related phenotypes are scoliosis and kyphosis

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.

NIH Rare Diseases : ⁵² 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.

KEGG : ³⁶ Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial... more...

More information from OMIM: 609813 PS277300

Clinical features from OMIM:

609813

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