Ablepharon-Macrostomia Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Ablepharon-Macrostomia syndrome is a very rare congenital disorder. This condition is characterized by deformities in the head and face area, skin, fingers, and genitalia. In some patients, there are abnormalities in the breast and chest wall as well. This disease is generally known since infancy or childhood.
Ablepharon-Macrostomia syndrome was first discovered in 1977 in two boys. Several cases after that were found in fathers and daughters.
Symptoms
In babies who have Ablepharon-Macrostomia syndrome, symptoms are generally found in the form of:
- Abnormal growth of the upper and lower eyelids
- Abnormalities in the head and face area. The most common is a mouth shaped like a fish’s mouth (macrostomia), and a cleft lip, gum or palate. Cheekbones appear too prominent.
- Abnormalities in the nose in the form of a smaller than normal nose size, and a lack of tissue that forms the nose (the nose looks like it is squashed).
- Abnormalities in the ear can be in the form of auricles that are not formed properly, and a lower ear position than it should be ( low set ear ).
- Abnormalities in the eye are also very common. These abnormalities can be in the form of dry corneas due to disorders of the formation of the eyelids (the eyes cannot close tightly), cloudy corneas, crossed eyes, disorders of the retina or optic nerves.
Patients with Ablepharon-Macrostomia syndrome generally experience growth delays, look thinner than people their age, and their development is also stunted. Patients with Ablepharon-Macrostomia syndrome also generally experience speech delays and mental retardation. However, there are also people with Ablepharon-Macrostomia syndrome who have a good level of intelligence.
In addition, genitalia disorder that usually occurs is genital ambiguity. This means that the genitals are not clearly male or female – such as a micropenis, no testicles in the scrotum, and so on.
In male sufferers, it is not uncommon for undescended testicles to occur, namely testicles that are not in the scrotum. In addition, in some patients, a protrusion of the intestine appears in the abdominal wall (ventral hernia).
Reason
Until now, the cause of Ablepharon-Macrostomia syndrome is not clearly known. It is suspected that there is a genetic disorder passed from parent to child, which causes this disorder. However, it is not yet known which gene is affected.
Diagnosis
A complete and targeted medical interview and thorough physical examination are required to determine the presence of Ablepharon-Macrostomia Syndrome. Including a history of Ablepharon-Macrostomia syndrome in the family is very important to confirm the diagnosis.
Treatment
Ablepharon-Macrostomia syndrome cannot be cured. The goal of treatment is to optimize the quality of life for people with this syndrome. Treatment must be multi-disciplinary. This means that it must involve pediatricians, ophthalmologists, surgeons and plastic surgeons, and so on. Abnormalities in the form of defects in the facial area generally require surgery to overcome them.
One of the most disturbing complaints is the condition of dry eyes. To overcome and prevent complications, sufferers of Ablepharon-Macrostomia syndrome must be given artificial tear drops regularly and continuously.
In terms of education, children with Ablepharon-Macrostomia syndrome are still encouraged to attend school. It is usually advisable to study at a school that provides education for children with special needs.
Prevention
Because the cause is not clearly known, Ablepharon-Macrostomia syndrome cannot be prevented.
If a sufferer of Ablepharon-Macrostomia syndrome plans to have children, he and his partner are advised to first undergo genetic counseling. Genetic counseling is important to find out how likely the child to be born will also have Ablepharon-Macrostomia syndrome.