OSLAM syndrome is a rare
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
hereditary disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
. Its name is an initialism of "
osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow syndrome". OSLAM syndrome was recognised and described by Mulvilhill ' as a syndrome that increases susceptibility to tumours and is characterised by an impaired regulation of bone and marrow development.
[Weber G.F. (2007.) ''Molecular Mechanisms of Cancer'', Springer, pg. 558.]
Individuals with OSLAM syndrome have an elevated risk of bone cancer, limb abnormalities, and enlarged red blood cells.
Signs and symptoms
Clinical presentation is consistent with:
* Bone cancer
*
Curved fifth fingers (clinodactyly) with brachymesophalangy (shortened phalanges of the toes and/or fingers (digits))
* Absence of one digital ray of the foot (a digit and corresponding metacarpal or metatarsal bone)
* Bilateral
radioulnar synostosis
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm. This can be present at birth (congenital), when it is a result of a failure of the bones to form separately, or follo ...
*
Enlarged red blood cells
* Dental decay
* Short stature
Diagnosis
Treatment
See also
*
Li-Fraumeni syndrome
References
External links
Osseous and chondromatous neoplasia
Sarcoma
Hereditary cancers
Syndromes
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