Pitt-Hopkins syndrome is a rare genetic condition that causes learning issues and developmental delays, breathing problems, chronic seizures (epilepsy), and unique facial features. Children with Pitt-Hopkins syndrome have delays in meeting milestones, including walking, talking, and using their fingers to pick up small objects (fine motor skills). Most affected individuals do not develop speech. Breathing problems include periods of rapid breathing (hyperventilation) followed by breathing that is slowed or completely stopped (apnea). Seizures can either be present at birth or develop during childhood. Facial features in individuals with Pitt-Hopkins include thin eyebrows, sunken eyes, a large nose, noticeable curve of the upper lip (Cupid’s bow), and a wide mouth with full lips. Other features may include small head size (microcephaly), nearsightedness, and height that is less than average (short stature).
Pitt-Hopkins syndrome is caused by a change (mutation) in the TCF4 gene and is inherited in an autosomal dominant manner, which means a mutation in only one of the two TCF4 gene copies a person has is enough to cause the condition. Most cases of Pitt-Hopkins syndrome are not inherited and are instead due to a new (de novo) mutation that is only present in the affected person and not in either of the parents.
Pitt-Hopkins is considered in a child who has delays in development, episodes of abnormal breathing, and unique facial features. The diagnosis is confirmed with genetic testing. Treatment options may include therapies to improve development. Medications may be used to help control seizures. If your child has been diagnosed with Pitt-Hopkins syndrome, talk with their doctor about all current treatment options. Support groups are a good source for additional information and to connect with other families affected by Pitt-Hopkins syndrome.