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Pseudoachondroplasia



Pseudoachondroplasia
Classification & 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 walking or a curious, waddling gait.

Additional recommended knowledge

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 complaint of pseudoachondroplasiacs.

Genetics

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

See also

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Pseudoachondroplasia". A list of authors is available in Wikipedia.
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