What is Ampola syndrome?

What is Ampola syndrome?

• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.

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

Ampola syndrome: Introduction

Types of Ampola syndrome:

Broader types of Ampola syndrome:

• Mental retardation conditions
• Intellectual or developmental disabilities
• Head conditions
• Growth conditions
• Seizure conditions
• Hand conditions
• Foot conditions
• Musculoskeletal conditions
• Limb conditions
• Bone or skeletal conditions
• Congenital conditions - physical defects
• Congenital conditions
• more types...»

What causes Ampola syndrome?

Causes of Ampola syndrome: see causes of Ampola syndrome

What are the symptoms of Ampola syndrome?

Symptoms of Ampola syndrome: see symptoms of Ampola syndrome

Ampola syndrome: Testing

Diagnostic testing: see tests for Ampola syndrome.

Misdiagnosis: see misdiagnosis and Ampola syndrome.

How is it treated?

Doctors and Medical Specialists for Ampola syndrome: Medical Geneticist ; see also doctors and medical specialists for Ampola syndrome.
Treatments for Ampola syndrome: see treatments for Ampola syndrome

Name and Aliases of Ampola syndrome

Main name of condition: Ampola syndrome

mental retardation, unusual facies [Ampola type], Morillo-Cucci-Passarge syndrome

Ampola syndrome: Related Conditions

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

• Hypotonia
• Low set ears
• Mental retardation
• Seizures
• Facial structure anomalies

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