Spondylothoracic dysplasia (Lavy-Moseley syndrome) is a rare disorder in which the spine and ribs do not develop properly and parts of the spine are fused together.
The portion of the spine supporting the chest is extremely shortened and are commonly fuse together with the adjacent ribs fusing to the spine.
On an x-ray this gives the thorax (the portion of the body extending from the neck to the abdomen and includes the cavity surrounded by the ribs, breastbone and certain vertebrae) a crab-like shape.
The shortened chest can restrict the size of the lungs, reducing lung capacity and thus causing thoracic insufficiency syndrome.
Birth defects may also affect the central nervous system, the genitals, and reproductive system, or the heart.
A malformed chest cavity that is too small for the infant’s lungs (especially as the lungs grow) may cause repeated and severe infections of the lungs i.e. pneumonia.
These malformations are present at birth (congenital) and can affect both males and females.
There are many form Spondylothoracic dysplasia type conditions and syndromes depending on the genes affected, but all cause very similar symptoms, however some symptoms can be worst in some conditions/syndromes than others for example:
Jarcho-Levin syndrome comes in 2 forms that are inherited as recessive genetic traits:
Spondylocostal Dyostosis type 2 (SCDO2) (this form is milder than SCDO1 since not all of the vertebrae are affected)
Cause
Family history
Change (mutation) in the one of four genes, DLL3 (Jarcho-Levin syndrome), MESP2, LFNG, HES7, TBX6 (some are unknown) which produces a protein that is involved in the NOTCH signaling pathway, this mutation gene changes this protein (making if not function or less effective or not enough of) affecting the normal chemical reactions for this pathway.
This gene change is inherited in an autosomal recessive manner.
Family history autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting this condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Source: https://www.afrjpaedsurg.org
Source: www.stanfordchildrens.org
Symptoms
Distinctive facial features and mild cognitive deficit may sometimes occur:
A broad forehead?
Wide nasal bridge?
Nostrils that tip forward?
Upwardly slanted eyelids?
Enlarged posterior skull (big head)?
Short neck?
Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
Slowed growth and/or shorter than average?
Regular and reoccurring chest infections?
Back pain?
Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine and/or arching back?
Spine may be s-shaped (scoliosis), abnormally curved inward (lordosis), or abnormally curved outward (kyphosis), causing the back to appear rounded?
Increased risk of developing inguinal hernia?
Bone and joint restricted movement?
Malformed bones of the vertebrae (spine), such as fused bones?
Webbed (syndactyly), elongated fingers?
Permanently bent (camptodactyly) fingers?
Complications /Information to beware of/General tips:
Casamassima-Morton-Nance syndrome (spinal problems and abnormalities of the penis, testicles, or vagina/Underdevelopment or malformation of genitals and urinary tract)
These conditions are very difficult to diagnose, a specialist opinion is required.
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Detailed Information
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