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Ablepharon-macrostomia Syndrome: Causes, Symptoms, Diagnosis And Treatment

Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal dominant genetic disorder. It is characterised by the abnormalities of the skin, skull, fingers and genitals. An inherited disease, the physical malformations also affects the nipples and the abdominal wall.

Infants born with AMS have significant facial features and is akin to Barber-Say syndrome (also demonstrates autosomal dominant inheritance). Even to date, medical experts and doctors are unaware of the exact reason by AMS develops in an infant [1] [2] .


Causes Of Ablepharon-macrostomia Syndrome

The underlying reason for the genetic disorder is still unknown. Some studies point out that the disorder may be inherited, as an autosomal recessive genetic trait.

In autosomal dominant disorders, a single copy of the disease gene will be the dominant one, with the other normal gene. The risk of transmitting the disorder from affected parent to offspring is 50 per cent [3] .


Symptoms Of Ablepharon-macrostomia Syndrome

The genetic disorder is characterised by the impairments affecting the facial and head area. It also affects the fingers, skin and the genitals [2] .

The signs and symptoms of the genetic condition are as follows [4] :

  • Absence or severe underdevelopment of the upper and lower eyelids
  • Absence of the upper and lower eyelashes, and eyebrows
  • Unusually wide, fish-like lips
  • Fusion of upper and lower lips on either side of the mouth
  • Absence of zygomatic arches
  • Triangularly-shaped face
  • Incompletely developed low-set ears
  • Small nose
  • Thin and wrinkled skin with excess folds (on the neck, hands, buttocks, backs of the knees and feet)
  • Unusually thin and sparse hair
  • Delayed language development
  • Mild mental retardation, in some cases

Diagnosis Of Ablepharon-macrostomia Syndrome

The genetic condition can be diagnosed by the doctors at the birth of the child. The characteristic physical features such as the facial features aid the doctor in diagnosing the condition [5] .

The doctor will carry out a physical examination and clinical evaluation to determine the condition. Then, the medical expert will recommend carrying out the following tests:

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

Treatment For Ablepharon-macrostomia Syndrome

The medical care provided for the genetic condition is dependent on the specific symptoms that are apparent in each individual. Therapies specified for AMS are symptomatic and supportive [6] .

In most cases, plastic surgery and reconstructive surgery are recommended to correct the abnormalities of the eyelids, mouth, and ears.

In some cases, surgery may also be performed to correct other eye abnormalities, certain skin abnormalities, malformations of the fingers, malformations of the external genitalia, and/or ventral hernias [7] .

View Article References  
  1. [1]   Ciriaco, P., Carretta, A., & Negri, G. (2019). Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome. BMC pulmonary medicine, 19(1), 1-4.
  2. [2]   De Maria, B., Mazzanti, L., Roche, N., & Hennekam, R. C. (2016). Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview. American Journal of Medical Genetics Part A, 170(8), 1989-2001.
  3. [3]   Marchegiani, S., Davis, T., Tessadori, F., Van Haaften, G., Brancati, F., Hoischen, A., ... & Venselaar, H. (2015). Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. The American Journal of Human Genetics, 97(1), 99-110.
  4. [4]   De Maria, B., De Jager, T., Sarubbi, C., Bartsch, O., Bianchi, A., Brancati, F., ... & Gallottini, M. (2017). Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. Molecular syndromology, 8(4), 172-178.
  5. [5]   Hollanders, K., Casteels, I., Vandelanotte, S., Reyniers, R., Segers, K., Nevens, T., & Mombaerts, I. (2018). Use of the Masquerade Flap in Ablepharon–Macrostomia Syndrome: A Case Report. Cornea, 37(7), 929-932.
  6. [6]   Feinstein, E., Traish, A. S., Aakalu, V., & Kassem, I. S. (2015). A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. Case reports in ophthalmology, 6(3), 366-372.
  7. [7]   Ferraz, V. E., Melo, D. G., Hansing, S. E., Cruz, A. A., & Pina‐Neto, J. M. (2000). Ablepharon‐Macrostomia syndrome: First report of familial occurrence. American journal of medical genetics, 94(4), 281-283.

Read more about: genetic disorder causes symptoms
Story first published: Tuesday, September 10, 2019, 20:03 [IST]
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