PACS1 Syndrome

What is PACS1 syndrome?

PACS1 syndrome is a condition that is characterized by distinct facial features, intellectual disability, and issues with speech and language. It is a very rare condition, with about 110 cases being described in medical literature throughout the world.

What are the symptoms of PACS1 syndrome?

A major symptom of this syndrome is intellectual disability, which can range from mild to moderate. It is accompanied by issues with speech and language; affected individuals have either no speech or have limited speech.

They also have distinct facial features:

Long eyelashes
Thick and highly arched eyebrows
Widely set eyes
The corners of the eyes point downwards
Thin upper lips
A wide mouth with downward pointing lips
Widely spaced teeth
Droopy eyelids
A rounded nose
A smooth area between the nose and upper lip
Low set, simple ears

There are other malformations that can take place throughout the body, such as abnormal hearts, eyes, brains, or other organs. Males can have undescended testes.

Affected individuals often swallow food without chewing, meaning that soft foods are a major part of their diet. They can also have gastroesophageal reflux.

Other symptoms may affect people, including autism-like symptoms, OCD, ADHD, self-injury, and frustration. Seizures, hypotonia, delays in walking, unusual gait, and frequent falls may also occur.

What causes PACS1 syndrome?

A mutated PACS1 gene results in this syndrome. It is needed to make a protein that transports molecules to the cells within the trans-Golgi network. When this gene is mutated, the protein cannot transport molecules to where they need to go, which results in accumulations and misplacements. Medical professionals are still conducting research to discover how these things lead to the symptoms. They do know that the mutation is inherited in an autosomal dominant pattern, although most cases are sporadic.

How is PACS1 syndrome diagnosed?

Doctors will look for the characteristic symptoms and perform a clinical evaluation, but the only way to confirm a diagnosis is through genetic testing.

What are the treatments for PACS1 syndrome?

A team of specialists is recommended to treat this syndrome. There is no cure; treatment is symptomatic. A dietician can help with feeding issues, an ophthalmologist with eye issues, a speech therapist with language issues, and physical and occupational therapists can help with movement issues. A pediatrician should also be a part of the team.

EEGs, MRIs of the brain, ultrasounds of the kidneys and heart, and other tests may be recommended to monitor any issues with the organs.