This severe inherited malformation syndrome was first reported by Robert L. Kaufman, an American geneticist, and coworkers in 1971.
Physical growth is delayed both before (in utero) and after birth. The head is small and the back part (occiput) is flattened. The face is long and narrow and the mouth large. The external ears may be misshapen and rotated toward the back. The eye opening can be slanted upward and can be narrowed due to drooping (ptosis) of the upper lid. The eyebrows are sparse. Some patients have other eye anomalies such as small corneas, crossing of the eyes, ‘dancing’ of the eyes (nystagmus), and they appear abnormally far apart. The chest (thorax) is sometimes bell-shaped. The hands and feet are long and narrow. Some children have severe constipation.
Some infants have breathing difficulty at birth and intellectual disability is soon apparent. Most do not speak.
This syndrome results from changes (mutations) in both copies of a specific gene. Parents have one mutated copy but are clinically normal. However, if both parents carry a single copy of the changed gene they confer a 25% risk of having this condition to each of their children.
The diagnosis may be suspected at birth by a pediatrician but because of the widespread congenital anomalies it may require collaboration with neurologists, ophthalmologists, orthopedists, and geneticists. A test for the gene change is likely required for confirmation of the diagnosis.
The intellectual disability presents lifelong challenges and requires ongoing care. There is no general treatment for the condition although individual malformations (e.g., drooping eyelids) can sometimes be corrected.