02/28/2021
February 28th is Rare Disease Day. This is my nephew, Sascha, and his service dog, Sandy. "Smith-Magensis Syndrome" is caused by a bit of missing genetic material on Chromosome 17. As per https://rarediseases.info.nih.gov/.../smith-magenis-syndrome, "The major features of Smith-Magenis syndrome include mild to moderate intellectual disability, delayed speech and motor skills, distinctive facial features, sleep disturbances, skeletal and dental abnormalities, and behavioral problems.
Facial features in people with SMS may be subtle in early childhood but usually become more apparent with age. They may include:
A broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw
A "flattened" appearance to the middle of the face and the bridge of the nose
A downward-turned mouth with a full, outward-curving upper lip
While people with SMS often have affectionate, engaging personalities, most also have behavioral problems. These may include:
Frequent temper tantrums and outbursts
Aggression
Anxiety
Impulsiveness
Difficulty paying attention
Self-injury, including biting, hitting, head-banging, and skin picking
Repetitive self-hugging (a trait that may be unique to SMS)
Compulsively licking the fingers and flipping pages of books (a behavior is known as 'lick and flip')
Additional features of SMS may include short stature, scoliosis, reduced sensitivity to pain and temperature, chronic ear infections, obesity, and a hoarse voice."
