Description & Medical Leads for Treatment

Arthrogryposis is not actually a disease, but a description of the symptoms that occur about 1 in 10,000 births. The simplest definition would be strong or stiff joints. Through lack of movement while in the womb, the babies muscles do not develop properly and the bones likewise fail to develop, often they are small and brittle. The lack of movement also causes the joints to be very stiff, and the pressure of the womb bearing down on these precious children often causes the limbs to be distorted in appearance- the most common being club feet, dislocated hips, and cupped hands.

There are some 350 different kinds of Arthrogryposis, which can make the specific type a very rare occurrence. This in turn, leads to difficulty in diagnosing the condition and treating it appropriately.

It took the Friedmann family over a year to nail down the specific type of Arthrogryposis that Avery has (Arthrogryposis Multiplex Congenita Distal Type IIE). From our perspective we would strongly recommend that any parent of a child with suspected Arthrogryposis would contact Seattle Children’s Hospital for their Arthrogryposis clinic (Dr. Kit Song); or Dr. Judith Hall at Children’s Hospital in Vancouver British Columbia. The team of doctors there, have written the only book available on this rare condition.