Orthopaedics

Musculoskeletal problems occur frequently in both children and adults with PTHS.

The hands are quite small and slender, and the fingers are often tapering. But this does not appear to cause major problems. The thumbs can be bowed less than usual in half of the children and rarely even not at all. Usually no therapy is needed. Also rarely someone with PTHS cannot move all fingers in the normal way; then physical therapy in the first year of life might make this better.

Major problems occur frequently in the feet: these are almost always slender and flat and can be turned outwards. Also, a pes cavus (high arch) occurs. Overlapping toes are not uncommon.
Minor limb anomalies do not require therapy, but the shape and function of the feet and ankles often require special footwear, inserts, or orthotics (R19). In selected cases, surgical procedures may be beneficial, for example, flat foot reconstruction.

Scoliosis (curving of the spine to one side) has been reported in 18% of children with PTHS (RH20). It can arise during puberty but also at younger ages. There is no study available on the results in larger groups on the management of scoliosis. Our joint experience indicates that the way a doctor deals with the scoliosis should be as for the general population (R21). Someone with a scoliosis can best be followed regularly, as that is the best way to show if treatment is needed or not.

Very infrequently other orthopaedic problems occur such as kyphosis (forward bending of the upper part of the spine), pectus excavatum (chest bone running inward), and decreased mobility in a knee. Each can be treated as in anyone with this problem without PTHS.