22q11.2 Deletion Syndrome Details

Expanded Description

22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22 characterized by cleft palate, heart abnormalities and learning disabilities.

Prevalence

No prevalence information has been added yet.

Causes

22q11.2 Deletion Syndrome is caused by a
missing (or deleted) part of the 22 chromosome, including some of the genes within it.

Disorder Symptoms

There are several symptoms that affect people with 22q11.2 Deletion Syndrome.

Name Description
Seizures Seizures
Hypocalcemia Hypocalcemia
Hearing loss Hearing loss
Autism Autism
Autoimmune disorders Autoimmune disorders
Learning difficulties Learning difficulties
Congenital heart disease Congenital heart disease
Skeletal abnormalities Skeletal abnormalities
Growth hormone deficiency Growth hormone deficiency
Palatal abnormalities Palatal abnormalities

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

We don't have any tips yet.

Become a Member

It’s free and easy to join RareShare. Click here to signup for an account.

Emanuel Syndrome

Recently Updated Communities

Autoimmune Hypophysitis
about 3 hours ago

Syringomyelia
about 11 hours ago

Systemic Capillary Leak Syndrome
about 12 hours ago

Sarcoidosis
about 23 hours ago

Polymyalgia Rheumatica
1 day ago

FAQ

Have questions about RareShare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.