What is Ablepharon macrostomia syndrome?

What is Ablepharon macrostomia syndrome?

• Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.

Ablepharon macrostomia syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Ablepharon macrostomia syndrome, or a subtype of Ablepharon macrostomia 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 Ablepharon macrostomia syndrome as a "rare disease".
Source - Orphanet

Ablepharon macrostomia syndrome: Introduction

Types of Ablepharon macrostomia syndrome:

Broader types of Ablepharon macrostomia syndrome:

• Ear and hearing conditions
• Hair conditions
• Head conditions
• Breast conditions
• Skin conditions
• Genital conditions
• Limb conditions
• Congenital conditions - physical defects
• Congenital conditions
• Eye and vision conditions
• more types...»

How serious is Ablepharon macrostomia syndrome?

Prognosis of Ablepharon macrostomia syndrome: The prognosis is usually poor.
Complications of Ablepharon macrostomia syndrome: see complications of Ablepharon macrostomia syndrome

What causes Ablepharon macrostomia syndrome?

Causes of Ablepharon macrostomia syndrome: see causes of Ablepharon macrostomia syndrome

What are the symptoms of Ablepharon macrostomia syndrome?

Symptoms of Ablepharon macrostomia syndrome: see symptoms of Ablepharon macrostomia syndrome

Complications of Ablepharon macrostomia syndrome: see complications of Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome: Testing

Diagnostic testing: see tests for Ablepharon macrostomia syndrome.

Misdiagnosis: see misdiagnosis and Ablepharon macrostomia syndrome.

How is it treated?

Doctors and Medical Specialists for Ablepharon macrostomia syndrome: Medical Geneticist ; see also doctors and medical specialists for Ablepharon macrostomia syndrome.
Treatments for Ablepharon macrostomia syndrome: see treatments for Ablepharon macrostomia syndrome
Research for Ablepharon macrostomia syndrome: see research for Ablepharon macrostomia syndrome

Name and Aliases of Ablepharon macrostomia syndrome

Main name of condition: Ablepharon macrostomia syndrome

AMS (Ablepharon macrostomia syndrome), Congenital ablepharon, absent eyelashes and eyebrows, wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Ablepharon macrostomia syndrome: Related Conditions

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

• Rare autosomal recessive disorder
• Ablepharon
• Barber-say syndrome
• Mental retardation

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