Miller syndrome

Miller syndrome is a rare condition that mainly affects the development of the face, arms, and legs. The severity of this disorder can vary among affected individuals.

Individuals with Miller syndrome typically have facial differences, which can include underdeveloped cheek bones (malar hypoplasia), a small lower jaw (micrognathia), and an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). These facial differences can cause feeding problems in infants with Miller syndrome. In some affected individuals, micrognathia may restrict the airway, which can also lead to breathing problems. Other facial features can include eyes that slant downward, eyelids that turn outward so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma.

Many individuals with Miller syndrome also have small, cup-shaped ears. Some affected individuals have hearing loss caused by defects in the middle ear (conductive hearing loss), which can lead to a delay in speech development.  

The bones of the arms and legs often develop abnormally in people with Miller syndrome. The most common problem is the absence of the fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and underdeveloped bones in the forearms. Another feature of Miller syndrome is the presence of extra nipples. Abnormalities of the heart have also been reported in individuals with this condition.