Aase Smith syndrome

Aase Smith syndrome:

Aase Smith syndrome: Introduction

Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia. More detailed information about the symptoms, causes, and treatments of Aase Smith syndrome is available below.

Symptoms of Aase Smith syndrome

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Reduced red cell production
Three bones in thumb (instead of two)
Hydrocephaly
Multiple contractures of the joints
Narrow shoulders
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See full list of 12 symptoms of Aase Smith syndrome

Home Diagnostic Testing

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Wrongly Diagnosed with Aase Smith syndrome?

Misdiagnosis of Aase Smith syndrome

Aase Smith syndrome: Complications

Read more about complications of Aase Smith syndrome.

Causes of Aase Smith syndrome

Read more about causes of Aase Smith syndrome.

Disease Topics Related To Aase Smith syndrome

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Misdiagnosis and Aase Smith syndrome

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Aase Smith syndrome: Research Doctors & Specialists

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Bone, Joint and Orthopedic Specialists:
Blood Health Specialists (Hematology):
Arthritis & Joint Health Specialists (Rheumatology):
- Rheumatology (Joint Health)
- Pediatric Rheumatology (Child Joint Health)
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Aase Smith syndrome: Animations

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Aase Smith syndrome: Broader Related Topics

Types of Aase Smith syndrome

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Definitions of Aase Smith syndrome:

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

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