The below text has come from the Little People of America's Website. We are currently updating all of our information on our website to ensure that we are able to bring our members the most upto date and correct information. If you have any questions regarding this condition please contact the RGA Office.

Pseudoachondroplasia is another form of short-limb restricted growth. Often, the diagnosis is not made at birth, but when the child is 2-3 years of age. At first, growth is normal. At 2-3 years of age, the diagnosis is suspected because of a delay in walking or an unusual, waddling gait is noted. As the growth rate slows, the trunk appears long with lumbar lordosis and rhizomelic shortening of the limbs. Final adult height is 80-130cm. A height curve is available for individuals with pseudoachondroplasia. It would be helpful for a child's paediatrician to have a copy of this height chart.

Individuals with pseudoachondroplasia have normal head size and facial features. A characteristic waddling gait is seen due to hip involvement. Legs are malaligned with a variety of knee deformities noted, including bow-legs (genu varum), knock-knees (genu valgum), and windswept deformities (bow-leg on one side and knock-knee on the other side). Joint hypermobility is seen, especially at the wrists and fingers; however, elbow extension is often limited. Hands and feet are short. Osteoarthritis occurs in early adulthood, especially in the weight-bearing joints. The most important complications of pseudoachondroplasia are orthopedic in nature. Correction of the hip and knees are done in most individuals.

Pseudoachondroplasia is inherited in an autosomal dominant manner. This means that a person with pseudoachondroplasia and their average-sized partner have a 50% or 1 in 2 chance of having children with pseudoachondroplasia. Like many other autosomal dominant conditions, children with pseudoachondroplasia are often born to average-sized parents. In these cases, pseudoachondroplasia is due to a new mutation or genetic change. The gene for pseudoachondroplasia has been discovered. It is called cartilage oligomeric protein or COMP for short.

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