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Ablepharon Macrostomia Syndrome

Find Out about This Extremely Rare Disorder

Apr 9, 2009 Naheed Ali

Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities.

Visible abnormalities observed in AMS (Ablepharon-Macrostomia Syndrome) victims involve the face and craniofacial (head and face) region, the skin, the fingers, and the genitals. Furthermore, affected patients may have deformities of the nipples and the abdominal wall. Infants and minors with Ablepharon-Macrostomia could also go through delays in linguistic development and, in some instances, mental retardation.

Symptoms of Ablepharon Macrostomia Syndrome

In babies with Ablepharon-Macrostomia Syndrome, noticeable craniofacial characteristics may involve: extreme underdevelopment of the upper and lower eyelids (ablepharon or microblepharon) as well as the lack of eyebrows and eyelashes, an atypical, wide, "fish-like" mouth (macrostomia), and/or incompletely grown (rudimentary), low-set ears.

Patients with Ablepharon-Macrostomia can also bear additional characteristic features like abnormally sparse, thin hair, thin, wrinkly skin with extra, redundant folds, weblike fingers with very little extension, and/or deformities of the external genitals. In certain instances, additional features connected with Ablepharon-Macrostomia may include nonexistent or abnormally small (hypoplastic) nipples and/or abdominal wall deformities.

While the direct cause of AMS isn’t fully determined, some studies show that the disease may be hereditary, since it surfaces as an autosomal recessive genetic trait. In certain instances of Ablepharon-Macrostomia, the person has protrusion of parts of the large bowel through a hole in the abdominal wall, which can be very similar to a ventral or abdominal hernia.

Information on Ablepharon Macrostomia Syndrome

Because Ablepharon Macrostomia Syndrome is such a rare illness, it can be difficult to find detailed information on this disease. Below are a few institutions that can help provide additional resources on Ablepharon Macrostomia Syndrome.

NIH/National Eye Institute: Building 31 Rm 6A32, 31 Center Drive, Bethesda, MD 20892-2510. United States. Website: nih.gov.

Children's Craniofacial Association 13140 Coit Road Suite 517, Dallas, TX 75240 USA, Website: ccakids.com.

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse. 1 AMS Circle, Bethesda, MD 20892-3675. USA. Website: nih.gov.

FACES: The National Craniofacial Association. P.O. Box 11082. Chattanooga, TN 37401. Website: faces-cranio.org.

Forward Face, Inc. 317 East 34th Street. New York, NY 10016. Website: forwardface.org.

To conclude, the management of Ablepharon Macrostomia syndrome involves plenty of dedication and devotion from the victim's friends and family. Contact the organizations listed above to learn more about Ablepharon Macrostomia Syndrome. This will help when caring for an affected patient.