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Definition

What is Ablepharon-Macrostomia Syndrome?

Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder that is characterized by various physical abnormalities affecting the head and facial area, the skin, the fingers, and the genitals. Additionally, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation.

In infants with Ablepharon-Macrostomia Syndrome, characteristic head and facial features may include absence or severe underdevelopment of the upper and lower eyelids (ablepharon or microblepharon) as well as absence of eyelashes and eyebrows; an unusually wide, “fish-like” mouth (macrostomia); etc

Although the exact cause of Ablepharon-Macrostomia Syndrome is not fully understood, some cases suggest that the disorder may be inherited as an autosomal recessive genetic trait.

How common is Ablepharon-Macrostomia Syndrome?

Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Ablepharon-Macrostomia Syndrome?

Ablepharon-Macrostomia Syndrome (AMS) is characterized by distinctive malformations affecting the head and facial (craniofacial) area; abnormalities of the skin, the fingers, and the genitals; additional physical abnormalities; delayed language development, in some cases, mental retardation.

In infants with AMS, distinctive craniofacial features may include:

  • Absence or severe underdevelopment of the upper and lower eyelids (ablepharon or microblepharon)
  • Affected infants also demonstrate absence of the upper and lower eyelashes as well as the eyebrows.
  • Infants with AMS may have an unusually wide, “fish-like” mouth (macrostomia) and resulting, defective fusion of the upper and lower lips on either side of the mouth
  • In some cases, the zygomatic arches, are the two bony arches spanning from the lower portion of the orbits of the eyes, across the prominence of the cheekbones to the bones forming part of the lower skull, may be absent.

Distinctive craniofacial abnormalities associated with Ablepharon-Macrostomia Syndrome may include:

  • A triangularly-shaped face
  • A small nose
  • Partial absence of tissue (coloboma) from the mid-portion of the nostril walls (alae), causing the nostrils to appear triangular
  • Incompletely developed (rudimentary), low-set ears (pinnae).

Infants with Ablepharon-Macrostomia Syndrome may:

  • Lack the soft, downy hair that typically covers most areas of the body (lanugo)
  • Affected individuals may also have unusually thin, sparse hair that develops abnormally late
  • Individuals with AMS have unusually thin, wrinkled skin with excess (redundant) folds, particularly over the neck, hands, buttocks, backs of the knees (popliteal fossae), and/or feet.

Children with Ablepharon-Macrostomia Syndrome may experience:

  • Delayed language development
  • Although some affected children may demonstrate mild mental retardation, others may have normal intelligence.

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Ablepharon-Macrostomia Syndrome?

The exact underlying cause of Ablepharon-Macrostomia Syndrome is still unknown. One theory suggests that the disorder may be transmitted as an autosomal recessive trait. However, one affected family (kindred) has also been reported in which the disorder appeared to be transmitted as an autosomal dominant trait with variable expression.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In autosomal dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy. In autosomal dominant disorders with variable expression, the characteristics that are manifested may vary greatly in range and severity from case to case.

Risk factors

What increases my risk for Ablepharon-Macrostomia Syndrome?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Investigators have described familial AMS in the sister of a previously reported affected female whose father has more minor features of the syndrome.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Ablepharon-Macrostomia Syndrome diagnosed?

If your doctor suspects that you experience Ablepharon-Macrostomia Syndrome, he/she will perform an exam thoroughly to determine this condition

Then he/she will order some tests such as:

  • Blood tests
  • X-rays
  • CT-scan
  • MRI

How is Ablepharon-Macrostomia Syndrome treated?

The treatment of Ablepharon-Macrostomia Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists who work together, to systematically and comprehensively plan an affected child’s treatment.

Specific therapies for the treatment of AMS are symptomatic and supportive. For example, prior to more extensive therapy, appropriate lubricants (e.g., eyedrops) and/or other supportive techniques may be used to help prevent, correct, or ease eye irritation and dryness. In some cases, plastic and reconstructive surgery may possibly be performed to correct certain malformations such as abnormalities of the eyelids, mouth, and/or ears.

In some cases, surgery may also be performed to correct other eye abnormalities, malformations of the fingers, certain skin abnormalities, malformations of external genitalia, and/or ventral hernias. Other treatment is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Ablepharon-Macrostomia Syndrome?

It is believed that genetic counseling will be of benefit for affected individuals and their families.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: June 26, 2017 | Last Modified: June 26, 2017

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