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GuideWisdom™

This WisdomCard managed by: Nicole Kinsey

Ablepharon Macrostomia Syndrome, also referred to as AMS, is an extremely rare genetic disorder characterized by physical abnormalities. AMS affects craniofacial (head and face), skin, fingers and genital areas. AMS may cause developmental delays or mental retardation in infants and children.¹

Fast Facts:

• -- Generally characterized at birth or through CAT Scan.¹
• -- Affects less than 200,000 people in the U.S. population.²
• -- Common symptoms: microblepharon (underdeveloped eyelids), mascrostomia ("fish-like" mouth), pinnae (low-set ears), webbed fingers, alopecia and malformation of external genitals.¹

Top Resources on Ablepharon Macrostomia Syndrome

• National Organization For Rare Diseases (NORD): Ablepharon Macrostomia Syndrome
• NORD (via Tufts-New England Medical Center): Ablepharon Macrostomia Syndrome - Full Report
• Orphanet: Ablepharon Macrostomia Syndrome
• WrongDiagnosis: Ablepharon Macrostomia Syndrome Introduction
• Johns Hopkins University (via PubMed): Ablepharon Macrostomia Syndrome

Related WisdomCards

• Autosomal Recessive Inheritance
• Craniofacial Abnormalities
• Microcephaly
• Genetic Testing
• Gene Mapping
• DNA
• RNA
• Chromosome

GuideWisdom and Fast Facts References

1. ↑ ^{1.0 1.1 1.2} NORD (via Tufts-New England Medical Center): Ablepharon Macrostomia Syndrome - Full Report
2. ↑ WrongDiagnosis: Ablepharon Macrostomia Syndrome Introduction

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