| 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.
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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 deteriarate 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.
The gene for pseudoachondroplasia was located, and is called cartilage oligomeric matrix protein (COMP).