Pallister-Killian Syndrome Details

Expanded Description

Pallister-Killian Syndrome is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.

Prevalence

No prevalence information has been added yet.

Causes

There is no known cause of PKS.

Disorder Symptoms

Symptoms may include but are not limited to:

developmental delays
low muscle tone
additional fingers or toes
diaphragmatic hernia
seizures
hypopigmentation
sparse hair pattern
broad nasal bridge
respitory problems
hearing impairment
vision impairment

We don't have any symptoms yet.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

PKS may be diagnosed via a buccal smear and by skin biopsy. Blood testing should be done via the new microarray testing.

We don't have any tests yet.

Disorder Treatments

Each symptom/affliction should be treated individually.

Occupational and Physical therapy, hearing aids, glasses, medications, etc.

We don't have any treatments yet.

Prognosis

There is no known prognosis, though it’s likely people affected by PKS may have a shortened lifespan. There are adults with PKS who are in their 30’s.

Tips for Living with the Disorder

We don't have any tips yet.