Symptoms Of Angelman Syndrome To Watch For

Microbrachycephaly

Microbrachycephaly refers to a combination of a small head size with flatness at the back of the head. It is one of the classic features of Angelman syndrome and may be one of the first parents and pediatricians notice. Head size may be measured at some routine appointments for infants, and doctors will also examine the child's head shape to see if it is flatter than expected. Individuals with this syndrome tend to have a head size that is smaller than their peers, and this remains the case throughout their lives. For patients with Angelman syndrome, microbrachycephaly usually occurs in combination with hypopigmentation. This symptom causes the patient to have light-colored hair, eyebrows, and eyes. While there are no treatments for microbrachycephaly and hypopigmentation, these symptoms may be the first clues that point to Angelman syndrome, potentially enabling patients to be diagnosed at an earlier stage and begin beneficial therapies sooner.