Crowded teeth, high and narrowly arched palate, and cleft palate are present in some cases. Winged scapulae and sternal abnormalities. Inguinal and umbilical hernia are frequent. Clinodactyly, pes planus, broad thumbs and halluces, high fingertip whorl count, and fetal toe pads. EEG disturbances are common.
Severe constipation is a frequent complication.
The growth may with initially retarded but tends to accelerate later in life in some cases. In other patients, the size may be normal at birth but is followed by postnatal growth failure. Retarded motor development is frequently associated. The syndrome is familial and was originally reported in three brothers and two of their male first cousins but some cases are sporadic. Transmitted as an X-linked trait.