Pseudoachondroplasia
| Pseudoachondroplasia | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q77.3 |
| ICD-9 | 756.4 |
| OMIM | 177170 |
| DiseasesDB | 32766 |
Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It is generally not discovered until 2-3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a delay in crawling, walking, or a curious, waddling gait.
Presentation
As the growth rate slows, lumbar lordosis and rhizomelic shortening of the limbs becomes apparent. Most pseudoachondroplasiacs are 80-130 centimeters (31-51 inches) in height. Knee deformities (bow-leggedness, knock-knees) are also common. Joint hypermobility at the wrist and fingers can be seen, although mobility at the elbow is slightly impaired. Osteoarthritis is a common characteristic of pseudoachondroplasiacs. As the joints deteriorate most children with the disorder have to have bone alignment surgery to protect the joints; also hip and/or knee replacement surgery is carried out on many in their early twenties.
Genetics
The gene for pseudoachondroplasia was located, and is called cartilage oligomeric matrix protein (COMP).
See also
External links
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