This rare syndrome was reported independently in the German medical literature by Friedrich Baller in 1950 and M. Gerold in 1959 and less than 50 cases have been reported since then. Due to the considerable variability in clinical signs, some have doubted its existence as a unique syndrome.
The primary features are an abnormal shape of the skull (called oxycephaly) and underdeveloped or absent bones in the forearm, primarily the radius (which is why the name craniosynostosis-radial aplasia syndrome is sometimes used). The thumb is often absent and in other patients there may be extra toes. The face is frequently malformed with a wide space between the eyes and the bridge of the nose may be flattened. Little is known about vision but sometimes the eyes have rapid movements called nystagmus or ‘dancing eyes’ suggesting that it is not normal. Short stature is common and growth is slow. Some patients have mental deficits as well. Internal organs are usually normal but the anus and genitalia are often malformed.
This is an autosomal recessive disorder in which the parents are sometimes related. A gene mutation has been identified and the disorder results when both normal parents contribute the mutation to their children.
The considerable variability in severity and nature of the abnormalities makes the prognosis difficult to define. Some infants have died young but other individuals certainly live considerably longer. The diagnosis requires a team approach with medical geneticists, pediatricians, neurosurgeons and ophthalmologists.