Learn more about the rare orphan Ablepharon-Macrostomia syndrome, including potential etiologies and inheritance patterns.
Ablepharon-Macrostomia syndrome is a rare genetic disorder with characterized abnormalities of the skin, fingers, genitals, skull and head. Symptoms are noticeable at birth, and possibly during pregnancy with a CAT scan, but little can be done to prevent the distinctive signs.
Ablepharon-Macrostomia syndrome affects roughly 200,000 individuals in the U.S. population. Because of the extreme rarity of the disorder, not much is known about the syndrome, such as causes, treatment options, prognosis and prevention. Even with the wide range of symptoms, affected individuals can still lead a productive and normal life.
One of the most notable symptoms of Ablepharon-Macrostomia syndrome is a complete lack of eyelids, eyebrows, and eyelashes which is noticeable at birth. Abnormalities of the ear, nipples, and genitalia are present in most affected patients.
Other signs include:
- Wide mouth
- Sparse hair
- Small nostrils
- Ear abnormalities
- Mental retardation
- Language delay
- Deformed abdomen which can cause hernias
- Web-like and limited extension of fingers
- Large skin folds
Ablepharon-Macrostomia syndrome is an autosomal recessive disorder. This means that it involves a mutation of a specific or multi-number of genes in the non-sex chromosomes of an individual. A patient with the syndrome needs two copies of this mutated gene--one from either parent--to get the syndrome. The parents who do not express signs of Ablepharon-Macrostomia syndrome but have a child with the disorder are considered carriers and usually will not show the characteristic signs of the syndrome.
As with most rare genetic disorders, there is no complete treatment or cure for Ablepharon-Macrostomia syndrome. There are, however, surgical methods to fix the absences of eyelids, eyelashes and eyebrows. Surgery can also fix some abnormalities of the genitals, nipples and abdomen. However, there is no surgery available to fix the majority of the aliments present in Ablepharon-Macrostomia syndrome. Some of these can be helped by educational and occupational therapies that can aid the patient in dealing with their potential delayed language development and mental retardation.
Because of the extreme rarity and low numbers of affected individuals who suffer from Ablepharon-Macrostomia syndrome, the syndrome is sometimes regarded as an "orphan syndrome". This means that is not financially beneficial or practical for researchers, investigators and pharmaceutical companies to create a treatment or drug for patients. Also, there are very few physicians that know and understand the symptoms of Ablepharon-Macrostomia syndrome because of the lack of research. Because of this, there is no known specific gene or genes responsible, lack of treatment options, and even lack of support groups that are knowledgeable in the field of Ablepharon-Macrostomia syndrome.