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Dr. Andrew Rynne

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Article Home Children's Health Ablepharon Macrostomia Syndrome

Ablepharon Macrostomia Syndrome

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Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder inherited as an autosomal recessive genetic trait in infants and children.Its characterised by the association of facial, genital, and cutaneous features with delayed language development.

Eye and facial anamolies

  • Absent/short eyelids
  • Absent eyebrows
  • Absent eyelashes
  • External ear abnormalities
  • Alopecia
  • Sparse hair
  • Hypoplastic malar region
  • Excess folds of think skin
  • Wide mouth
  • Small nostrils
  • Triangular nostrils
  • Rudimentary ears
  • Dry and coarse skin

Nipple and genital malformations

  • Hypoplastic nipples
  • Ambiguous genitals
  • Small penis
  • Absent nipples

Complications

In many cases the distinction between symptoms of Ablepharon macrostomia syndrome and complications of Ablepharon macrostomia syndrome is unclear or arbitrary.

  • Corneal opacity
  • Alopecia
  • Ambiguous genitalia (female genotype)
  • Ambiguous genitalia (male genotype)
  • Macrostomia
  • Cutaneous laxity

Treatment

Plastic surgery may permit reconstruction of the eyelids, external ears and mouth and zygomatic arches may be remodelled by implantation of subcutaneous prostheses.


Chin and breast hypoplasia can also be treated by plastic surgery.