Achondroplasia
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:
In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.
There is no specific therapy. However, some individuals benefit from limb lengthening procedures. These usually involve application of Llizarov frames and targeted bone fractures. A clearly defined need and end point is the cornerstone of achieving success with such procedures.
- short limbs (rhizomelia) with shortened fingers (brachydactyly)
- large head with frontal bossing and narrow foramen magnum
- midface hypoplasia with a flattened nasal bridge
- 'trident' hands
- lumbar lordosis
In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.
Treatment
There is no specific therapy. However, some individuals benefit from limb lengthening procedures. These usually involve application of Llizarov frames and targeted bone fractures. A clearly defined need and end point is the cornerstone of achieving success with such procedures.