This is a recently reported syndrome based on the clinical and genetic findings among six patients identified in Spain.
Infants are large (greater than the 97th percentile) in weight, length and head circumference at birth. The jaw is also large and the forehead is prominent; the lips appear full and the eyebrows are ‘bushy’. Closure of the skull soft spots is delayed. Infants appear floppy with hyperflexible joints. Some patients develop abnormal curvature of the spine (scoliosis). There may be repeated inflammation inside the mouth and gastric reflux is common. Tear production is low and some patients have repeated bouts of inflammation involving the cornea (windshield) and adjacent structures. The teeth are late to erupt.
Brain imaging reveals multiple malformations. Intellectual and motor functions are often delayed and patients may have frank intellectual disabilities, mood variations, fainting spells, interruptions in their breathing patterns and general clumsiness. Many developmental milestones such as speech may be delayed.
This condition is the result of a gene change (mutation) occurring in one member of a pair. It can be transmitted directly from parent to child with a 50% probability.
The diagnosis may be suspected at birth by a pediatrician but diagnostic verification likely requires a neurologist, ophthalmologist, radiologist, and other specialists. No treatment is known. Individuals can live to adulthood. There is considerable variation of the clinical features among individuals.