The Ablepharon Macrostomia syndrome or the AMS is a sporadic autosomal disorder of the recessive kind and is related to genetics and dominated by the skull malformed and the fingers, skin, and the genitals also forming abnormally.
This is a syndrome that is seen to typically affect individuals so that they have malformations of nipples and the abdominal wall. If the individual is younger, he might have some language difficulties, and also, in some cases, there are instances of mental retardation.
The Ablepharon macrostomia syndrome has a kind of recessive pattern while inheriting the qualities. It has been seen that this is usually inherited in a manner that is scientifically termed recessive.
So it is also called an autosomal recession pattern. This indicates that the gene responsible for this kind of disorder is situated on an autosome, and there are two replicas of the defective gene.
The gene inherited from the father and the mother’s gene is needed to be born with this disorder. So if both the parents give the defective gene, then that is when it is supposed to occur.
The individual’s parents typically carry this disorder with the recession and have the faulty gene but usually do not experience the signs and symptoms connected to the disease.
Symptoms of Ablepharon macrostomia
The Ablepharon macrostomia condition is seen to occur with some symptoms. These are- Short eyelids, lack of eyebrows or eyelashes, and some abnormalities of the ear. Then there is alopecia.
Treatment of Ablepharon macrostomia
The treatment of the condition is usually followed reconstructive surgery. The surgery is required to treat the undescended testes or the hernia that is generally with the disorder.
Ablepharon or adelphia is typically the congenital absence of the eyelids. The name comes from the term Blepharo which means eyelid, and A, indicating the lack of.
This rare genetic disorder is usually affected in individuals prone to it biologically and due to genetic relations. So the lack of underdeveloped eyelids is the main feature of this condition.
There are other conditions like the fish-like mouth, which is called macrostomia. Then there are low set ears besides many abnormalities in the eyes. The skin usually is thin, dry, sparse, and coarse in such individuals and has many folds. There are webbed fingers with a limited finger growth, and they extend only for a bit of distance.
Then the genitalia is also seen to get affected, and there is a protrusion of the large intestine such that it projects out of the wall of the abdomen. This is known as an abdominal hernia.
Causes of Ablepharon Macrostomia
The causes of this unique syndrome are not yet known, and most of the cases say that this could be inherited as a genetic trait of the autosomal recessive kind.
There are many children and infants with this kind of syndrome, and these children thus show a lot of delay in language development. Then some have minor mild retardation too.
Ablepharon Macrostomia has been seen in a lesser number of people. There are visual problems that never seem to heal, and then the syndrome is also related to some early corneal exposure. There is a certain amount of hearing loss and even the absence of lanugo in the body. There are short metacarpal bones that have been very commonly seen.
Ablepharon Macrostomia is not the same as the Barber Say syndrome, which also has the macrostomia factor. In the case of AMS, the abnormalities of the genitalia are more severe than the Barbey Say syndrome.
Both the syndromes have sparse eyebrows, abnormal formation of the nose, hypoplastic nipples, and sparse eyelashes. The only difference lies in the marked hypertrichosis condition in the Barber Say Syndrome.
With the advent of plastic surgery, it is straightforward to rectify the discrepancies in structure, so it is better to attend to the conditions of Ablepharon Macrostomia rather than leave it that way.