An individual with Smith-Magenis syndrome may have many of the following physical characteristics or only a select few. There is a wide range of physical characteristics in Smith-Magenis syndrome.
Common facial features in Smith-Magenis syndrome include;
- Brachycephaly (flat head shape)
- Heavy brows with a prominent forehead
- A broad face
- Mid-face hypoplasia (when the centre of the face develops more slowly than the eyes, forehead and jaw)
- Broad nasal bridge
- Downturned corners of the mouth
- Upward slanting eyes
- A heavy jaw
The facial appearance of people with Smith-Magenis syndrome changes with age; in infancy it is described as ‘doll like’ or cherubic but it is described as coarsening with age.
Other physical features include short, broad hands, short stature and a hoarse, deep voice.