Pseudoachondroplasia

Pseudoachondroplasia is a form of dwarfism, which is characterized by short limbs.

The diagnosis is often made ​​not at birth, but only in small children aged two to three years. First, these children grow normally, but at the age of two to three years is a sign that a child begins to run out of time and developed a waddling gait, which often leads to this diagnosis. The child's growth is slowing down more and more in the following years. With progressive slowdown in the growth rate of the torso with lumbar lordosis and a rhizome-like shortening of the limbs appear. The final height of an adult is 80-130 cm. A growth curve for individuals with Pseudoachondroplasia is available ( from the Greenberg Center for Skeletal Dysplasias ). A copy of the individual growth curve of a child would be helpful for a pediatrician.

Individuals with Pseudoachondroplasia have normal head size and facial structures. The characteristic waddling gait is due to the involvement of the hip while running. The legs are not equal aligned and can have a variety of deformations, such as O-, or saber legs ( genu varum ), knock-knees ( genu valgum ), and other mixed deformations (O- leg on one side and X - leg on the other side). Joint hypermobility can be observed, especially in the hand and finger joints, but the yield capacity of the elbow is often limited. The hands and feet themselves are rather short. Osteoarthritis occurs in early adulthood, especially in load-bearing joints. The main complications are encountered in Pseudoachondroplasia orthopedic nature. A correction of the hip and knee is performed in most patients.

Pseudoachondroplasia is autosomal dominant. This means that a person with Pseudoachondroplasia with a normal-sized partner a fifty -owned or 1 to 2 risk has to have children with Pseudoachondroplasia ( according to the Mendelian rule). As with many other autosomal dominant hereditary diseases also, children are often born with Pseudoachondroplasia of normal-sized parents. In these cases the Pseudoachondroplasia caused by a new mutation.

The gene for Pseudoachondroplasia has already been discovered and is called COMP ( cartilage oligomeric protein).

Swell

• Greenberg Center for Skeletal Dysplasias