Coffin-Lowry syndrome is a rare genetic disease that tends to be more severe in men than women. Like many congenital conditions, it can vary in severity from person to person as a result of genetic variation, and it may be difficult to make prognostic predictions at birth. People with Coffin-Lowry syndrome receive treatment based on their symptoms, with a focus on helping them stay comfortable and as independent as possible. As of 2012, there was no cure for the disorder, because of the level of genetic complexity involved.
Patients with this condition have craniofacial abnormalities that tend to cause their heads to be unusually small, while their facial features may appear distorted. The forehead tends to be large, while the eyes can pull down and the mouth may appear misshapen. As people age, this can become more pronounced, and may cause problems with vision and dentition in some cases. In addition, many patients have hands with shortened fingers, which can be a diagnostic sign used to identify this condition.
These skeletal abnormalities can be accompanied by scoliosis, a curvature of the spine. Spinal curvature typically increases in severity as the patient grows, although the use of braces and spinal surgery can sometimes help arrest it. Many patients are also unusually short as a result of their skeletal problems. Some experience a problem known as stimulus-induced drop episodes, where loud noises cause disorientation and falling.
In addition to the physical anomalies associated with Coffin-Lowry syndrome, many patients have some degree of intellectual disability. This can range from mild to profound; some patients may be able to live very active and independent lives, while others may need assistance from aides to perform basic tasks of daily living. Regular assessments can determine the level of disability and help medical practitioners develop interventions to help the patient achieve the best possible outcome.
At the time of a Coffin-Lowry syndrome diagnosis, a doctor may recommend a thorough patient evaluation. A specialist can meet with the patient to determine the specifics of the case, and may also discuss parent medical history and risk factors. This information can be helpful when determining the likely degree of impairment a patient may experience in association with Coffin-Lowry syndrome, and it can help a medical team plan ahead with interventions to treat the patient. For example, early intervention with spinal curvature can help keep the spine as straight as possible.