There are many symptoms associated with Shprintzen syndrome. Patients suffering from the genetic disorder may experience all or just some of the problems. Each individual case can either be mild or very severe, impacting the quality of life of the individual.
The most common symptom impacting those with this disease are general learning difficulties. The brain of the individual cannot process or receive information properly. Roughly 90 percent of cases of Shprintzen syndrome are impacted. Sometimes this leads to schizophrenia or incidents of psychosis.
Half of those born with the disease also suffer from hypocalcaemia, low levels of calcium in the blood plasma caused by defects in the parathyroid gland. This leads to secondary problems in the individual. Common signs of hypocalcaemia include rashes, a tingling sensation in the extremities, the involuntary contraction of muscles and heart problems.
The same amount of patients are born with malformed palates. This is identifiable at birth as the child's face did not correctly develop while in the womb. The most common occurrence is a cleft palate. However, other issues such as hypertelorism, the distance between the eyes is expanded, or velopharyngeal incompetence, the malformation of the mouth and nasal cavity. This can lead to vision or speech problems.
Other symptoms of Shprintzen syndrome include congenital heart disease, particularly problems with the aorta and pulmonary artery, as well as kidney issues. Some individuals may also have hearing loss, problems with growth and development, abnormal skeletal development and even disorders with the immune system. Over the course of time, people can also experience seizures.