Pitt-Hopkins Syndrome Details

Expanded Description

Pitt-Hopkins Syndrome is a very rare genetic disorder characterized mainly by psychomotor delay and in some individuals periods of apnea and/or seizures.

Prevalence

No prevalence information has been added yet.

Causes

Pitt-Hopkins Syndrome is caused by the deletion of Chromosome 18q21.2 or the mutation of a gene which is also located in this area. Chromosome 18q21.2 includes a gene which produces an important protein called TCF4, the loss or mutation of which is associated with a condition called Pitt Hopkins Syndrome.

Disorder Symptoms

No symptom information has been added yet.

Name	Description
Wide mouth	Wide mouth
Hyperventilation and apnea	Intermittent hyperventilation followed by apnea
Mental retardation	Mental retardation
Distinctive facial features	Distinctive facial features

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

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