What is Aase Smith syndrome?

What is Aase Smith syndrome?

• Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.

Aase Smith syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Aase Smith syndrome, or a subtype of Aase Smith syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Aase Smith syndrome as a "rare disease".
Source - Orphanet

Aase Smith syndrome: Introduction

How serious is Aase Smith syndrome?

Complications of Aase Smith syndrome: see complications of Aase Smith syndrome

What causes Aase Smith syndrome?

Causes of Aase Smith syndrome: see causes of Aase Smith syndrome

What are the symptoms of Aase Smith syndrome?

Symptoms of Aase Smith syndrome: see symptoms of Aase Smith syndrome

Complications of Aase Smith syndrome: see complications of Aase Smith syndrome

Aase Smith syndrome: Testing

Diagnostic testing: see tests for Aase Smith syndrome.

Misdiagnosis: see misdiagnosis and Aase Smith syndrome.

How is it treated?

Treatments for Aase Smith syndrome: see treatments for Aase Smith syndrome

Name and Aliases of Aase Smith syndrome

Main name of condition: Aase Smith syndrome

hydrocephalus cleft palate joint contractures, joint contractures with other abnormalities

Aase syndrome Source - Diseases Database

Hydrocephalus cleft palate joint contractures, Joint contractures with other abnormalities
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Aase Smith syndrome:

• Hydrocephalus
• Diamond-Blackfan anemia
• Anemia
• Dandy Walker anomaly

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