Patients affected with this syndrome present with
short stature as a result of symmetrical limb malformations. In the upper
limbs, the main findings are short metacarpal bones (especially the first
metacarpals), short phalangeal bones (particularly the middle ones), and
hypoplasia of the carpal bones. The thumbs are
button-like, and all fingers tend to have radial deviation. In the lower
limbs, the fibulas are either absent or severely hypoplastic, and the knees
may be dislocated with hypoplastic and displaced patellae. The feet usually
have an equinovalgus deformation associated with tibiotarsal dislocation of
the ankle. The metatarsals are hypoplastic, as are the phalanges of all toes, which
resemble ball-like remnants with hypoplastic nails. Intelligence and
craniofacial features are normal.