Muscles and bones

Children and adults with PTHS often have problems with their muscles and bones (musculoskeletal).

Their 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. 

Rarely someone with PTHS cannot move all his or her fingers in the normal way; then physical therapy in the first year of life might improve this.

There are often major problems with the feet: these are almost always slender and flat, can be turned outwards, and with a high arch (pes cavus). Overlapping toes are common. 

Minor limb anomalies do not require therapy but the shape and function of the feet and ankles often require special footwear, inserts, or devices known as orthotics. In selected cases, surgery may help, for example, flat foot reconstruction.

Curving of the spine to one side (scoliosis) has been reported in 18% of children with PTHS. It can develop during puberty but also in younger children. 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 the same as for the general population. Someone with a scoliosis should 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 forward bending of the upper part of the spine (kyphosis), chest bone running inward (pectus excavatum), and decreased mobility in a knee. Each can be treated as in anyone with this problem without PTHS.


19/ Flat feet and feet that are turned outwards often require special footwear, inserts, or orthotics. Surgical correction may be necessary if problems with walking remain.

20/ Individuals with PTHS should have their spine checked regularly from an early age. 

21/ The way doctors need to deal with a curved spins (scoliosis) in individuals with PTHS can be the same as in the general population.

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