Pseudoachondroplasia

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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[edit]

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[edit]

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

See also[edit]

External links[edit]