The main findings are short stature,
syndactyly/synostosis with abnormal phalanges, and fusion of the metacarpals
resembling the “spoon hand” deformity of Apert syndrome. The ulna and
radius may be fused and shortened. The feet are usually less severely
affected. Joint mobility may be restricted. Agenesis or hypoplasia of the
kidneys, genital anomalies, cavernous hemangiomas, and supernumerary nipples
have been observed occasionally. Facial features may include a high, wide,
prominent forehead, hypertelorism, downslanting palpebral fissures, short
nose with depressed nasal bridge, short but prominent philtrum, and malar
hypoplasia.