Ablepharon macrostomia syndrome

AMS, Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies


Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia. The people affected by AMS may also have malformations of the nipples and the abdominal wall. Younger individuals might experience language difficulties, and in some instances mental retardation is known.

Symptoms - Ablepharon macrostomia syndrome

  • Absent/short eyelids
  • Absent eye brow and lashes
  • External ear abnormalities
  • Alopecia
  • Sparse hair
  • Hypoplastic malar region
  • Excess folds of think skin
  • Nipple abnormalities
  • Absent nipples
  • Abnormal genitalia
  • Wide mouth
  • Small nostrils
  • Triangular nostrils
  • Rudimentary ears
  • Dry skin
  • Coarse skin
  • Webbing between proximal phalanges of fingers
  • Hypoplastic nipples
  • Ambiguous genitals
  • Small penis
  • Retarded development
  • Abnormal hair quantity
  • Fine hair
  • Cheekbone under development
  • Cutis laxa
  • Neurological speech impairment
  • Underdeveloped nasal alae

Causes - Ablepharon macrostomia syndrome

The cause of Ablepharon Macrostomia Syndrome is not known, but some of the cases suggest that AMS may be inherited as an autosomal recessive genetic trait.

Prevention - Ablepharon macrostomia syndrome

Not supplied.

Diagnosis - Ablepharon macrostomia syndrome

Not supplied.

Prognosis - Ablepharon macrostomia syndrome

Not supplied.

Treatment - Ablepharon macrostomia syndrome

Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.

Resources - Ablepharon macrostomia syndrome

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