Achondroplasia
Published on Nov 18, 2015
No Description
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PRESENTATION OUTLINE
ACHONDROPLASIA
DESCRIPTION
- The most frequent form of short-limb of dwafrism
- Short limbs, normal size head, and trunk
- Short fingers
- Midfacial retrusion and depressed nasal bridge
- Trident configuration of the hands
The FGFR3 gene was isolated and studied in connection with a search for the Huntington disease gene.
SYMPTOMS
PEOPLE WHO HAVE THIS DISORDER HAVE ADNORMAL BONE GROWTH
SIMILAR DISEASES
HYPOCHONDROPLASIA IS AN SKELETAL DISORDER THAT IS SIMILAR
GENE MAP LOCATION
The protein encoded by the FGFR3 gene usually receives and transmits signals that stimulate cell maturation. Mutations in this gene cause a dysfunctional protein to be produced that causes a disruption to growth, known as achondroplasia or dwarfism.
It's found
on chromosome 4p16.3.
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
CLINICAL MANAGEMENT
THERE IS NO SPECIFIC TREATMENT
