What is 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).
What causes Jarcho-Levin syndrome?
A genetic mutation causes Jarcho-Levin syndrome. It’s an inherited, congenital (present at birth) condition and occurs when both parents have a recessive (not dominant) gene for the syndrome. It is more common among children of Puerto Rican ancestry than other ethnic groups.
How common is Spondylocostal dysplasia?
Spondylocostal dysplasia is a rare disorder. The exact prevalence or incidence of the disorder is unknown. Because it is a rare disorder, some people may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.
How common is Jarcho-Levin syndrome?
Jarcho-Levin syndrome is very rare and affects both males and females. It is not known exactly how often it occurs but there seems to be a higher incidence in people of Spanish background.
What is Dysostosis?
Dysostosis is a disorder of an individual bone, either singly or in combination (e.g., skull and fingers). Examples include polydactyly/syndactyly and craniosynostoses. There are 33 groups of osteochondrodysplasia and three categories of dysostosis in the current classification system.
Is it normal to be missing a rib?
An extra rib or a missing rib, if it does not affect the size or shape of the chest, is not likely to be noticed, and is generally not a health concern. Signs of more significant rib deformities may include: Narrow or undersized chest.
What is the difference between dysplasia and dysostosis?
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together….
| Cleidocranial dysostosis | |
|---|---|
| Frequency | One per million people |
What does Cleidocranial Dysostosis mean?
Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area.
Does the sternum protrude?
Pectus carinatum is a condition in which the sternum (breastbone) protrudes, or sticks out, more than usual. It is the opposite of pectus excavatum, in which the breastbone is depressed inward and gives the chest a sunken appearance.
What is Waardenburg syndrome?
Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. Broad nasal bridge, or widening of the base of the nose, is a relative term.