You are currently viewing Ablepharon Macrostomia Syndrome :‎ Medical Notes & Mindmap

The absence of eyelids and deformities in the mouth and face are hallmarks of the uncommon genetic condition known as Ablepharon macrostomia syndrome. It is caused by a mutation in the FOXC2 gene, which is in charge of the head and neck region’s development throughout foetal development. Those who have this disease frequently have huge, projecting mouths and wide-set eyes.

Ablepharon Macrostomia Syndrome‎ [MEDNOTES+MINDMAP]

  • Definition

    • Ablepharon macrostomia syndrome (AMS) is a rare genetic disorder characterized by the absence or underdevelopment of the eyelids and the presence of a large mouth.
    • It is caused by mutations in the FOXC2 gene, which is involved in the development of the head and face.
  • Epidemiology

    • The incidence of AMS is not well-known, as it is a rare condition.
    • AMS has been reported in people of various ethnicities.
  • Natural history

    • The severity of AMS can vary greatly among affected individuals.
    • Some individuals with AMS may have normal intelligence and a life expectancy similar to that of the general population, while others may have intellectual disability and a shorter life expectancy.
    • The presence of other abnormalities, such as heart defects, can also affect the natural history of AMS.
  • Classification/Types/Stages

    • AMS can be classified into three types based on the severity of the condition:
      • Type 1: Mild AMS, characterized by underdeveloped eyelids and a large mouth.
      • Type 2: Moderate AMS, characterized by the complete absence of eyelids and a large mouth.
      • Type 3: Severe AMS, characterized by the complete absence of eyelids, a large mouth, and other abnormalities such as heart defects.
    • AMS can also be classified into stages based on the severity of the eyelid and mouth abnormalities:
      • Stage 1: Mild abnormalities.
      • Stage 2: Moderate abnormalities.
      • Stage 3: Severe abnormalities.
  • Risk Factors:

    • Genetic: AMS is a rare genetic disorder caused by a mutation in the FOXL2 gene. This gene plays a crucial role in the development of the eyelids and other facial features.
    • Environmental: There are no known environmental risk factors for AMS.
  • Etiology/Causes:

    • AMS is caused by a mutation in the FOXL2 gene, which is responsible for the development of the eyelids and other facial features.
    • This genetic mutation is usually inherited from one or both parents, but it can also occur spontaneously.
    • AMS is a rare disorder, with an estimated incidence of 1 in 100,000 to 1 in 500,000 live births.
  • Signs:

    • Absence or underdevelopment of the eyelids (ablepharon)
    • Large mouth (macrostomia)
    • Webbing or fusion of the fingers and toes (syndactyly)
    • Small head (microcephaly)
    • Cleft lip and palate
    • Hernias
    • Abnormal curvature of the spine (scoliosis)
    • Delayed development
  • Symptoms:

    • Difficulty closing the eyes, leading to dryness and irritation
    • Vision problems due to lack of eyelids
    • Difficulty breastfeeding due to the large mouth and cleft palate
    • Speech delays due to the cleft palate
    • Increased risk of respiratory infections due to the cleft palate
    • Difficulty with fine motor skills due to the webbing or fusion of the fingers and toes
    • Delays in developmental milestones due to the physical and neurological abnormalities associated with AMS.
  • Pathology/Pathogenesis:

    • Rare genetic disorder that affects the development of the eyes and eyelids
    • Caused by mutations in the FOXC2 gene, which plays a role in the development of the head and neck
    • Results in the absence of eyelids and malformation of the eyes
    • Can also cause abnormalities in other parts of the head and neck, including the ears and mouth
  • Diagnosis/Laboratory Diagnosis:

    • Typically diagnosed at birth or in early infancy
    • Diagnosed through physical examination and genetic testing
    • Genetic testing can confirm the presence of a mutation in the FOXC2 gene
  • Tests Required:

    • Physical examination
    • Genetic testing
    • Other tests may be needed to assess the severity of the condition and any other abnormalities present
  • Associated with/Strongly Associated with:

    • Multiple other genetic disorders, including other craniofacial abnormalities
  • Similar diseases/syndromes:

    • Craniofacial abnormalities
    • Anophthalmia (absence of the eyes)
    • Cryptophthalmos (eyelids fused over the eyes)
  • Treatment:

    • Treatment is based on the severity of the condition and any other abnormalities present
    • May include surgical correction of the eyelids and eyes, as well as plastic surgery to improve the appearance of the face
    • Other treatments may be needed to address any other abnormalities present, such as hearing loss or abnormalities in the mouth or teeth

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
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