Congenital facial diplegia; Moebius sequence.

INCIDENCE

• This is a rather uncommon syndrome, but it is nevertheless one that has significant repercussions for the treatment of newborn infants. Both males and females have an equal chance of being affected.

• The intriguingly named 'Charlie M' syndrome and Poland syndrome are two more syndromes that are quite similar to Moebius syndrome.

  • It has been theorized that all three syndromes are connected in some way. In addition to facial issues, patients with these two more recent diseases also exhibit anomalies in the muscles of their arms, fingers, and chest.

  • It has been hypothesized that the fundamental cause of these abnormalities is a failure in the formation of particular blood arteries at a crucial point of prenatal life.

  • The Charlie M syndrome and the Poland syndrome are both extremely unusual.

CAUSATION

This is a contentious issue. It is believed that the majority of instances are the result of a novel mutation and that they are sporadic, although it is also believed that an autosomal dominant inheritance may be feasible. There was one family who had chromosomal anomalies, and all three generations of that family were affected by the syndrome. However, this has not been documented again. The possibility that the mother experienced an illness, drug misuse, or accident during the first three months of her pregnancy is yet another theory put forth to explain the origin of this disease. There is not currently an available prenatal test. The absence of facial movement is a telltale sign of Moebius syndrome, which is present at birth.

CHARACTERISTICS

• The face is where most of the symptoms of Moebius syndrome manifest themselves. The facial muscles of the newborn, typically on both sides, do not move nearly as much as they should when they are first born. There is very little evidence of facial expression, and the majority of the time both the baby's eyes and lips are visible to the observer. There are times when the condition simply affects the upper region of the face on both sides. Studies have been conducted in regard to the cranial nerves that supply the face muscles, which originate directly from the brain stem. These nerves are the source of the facial muscle supply. The nuclei, often known as the "powerhouse" of the nerve, have been observed to be underdeveloped and undersized in a few specific cases that have been thoroughly researched.

• It is common for patients to also have weakness in the muscles of the palate and the tongue, in addition to the face muscles that are affected. Because of the intricate connection that exists between all of these muscles and the act of sucking and swallowing, it can be challenging to feed a brand new baby. It is possible that tube feeding will be required on occasion in order to guarantee that he or she receives adequate nourishment for growth.

• Milk, or even just saliva and mucus, can be aspirated into the lungs of infants as young as these, which poses a serious health risk. If something like this happens, broncho-pneumonia might develop as a consequence.

• Although most of these issues get better as the child gets bigger, older children still occasionally have issues with solid food becoming stuck in their cheeks. This is as a result of the persistent trouble he or she will be experiencing with the muscles of his or her face.

• It is imperative that great attention be paid to the eyes in order to prevent corneal ulcers and scratching. This is because the infant is unable to completely close his or her eyes at this stage of development. It is possible for minute particles of dust in the air to stay on the fragile tissue of the cornea even after normal blinking has removed them from the environment.

• Speech: challenges in the correct articulation of words may be encountered as this ability is acquired. Because of the infant's underdeveloped facial muscles, it is challenging for the child to move their lips and tongue in unison in order to shape and generate sounds.

• There is a possibility that Moebius syndrome will also cause malformations of the digits in the affected infants. Either these can be made short and compact, or these can be made long and lean.

• Additionally, chest muscles may be impacted by this disease, and in some cases they may not even be present at all.

• There is an additional finding of talipes in 35% of infants diagnosed with Moebius syndrome. These latter three symptoms are similar to those that are observed in people with Poland syndrome.

MANAGEMENT IMPLICATIONS

• The majority of life's most serious challenges can be found in the first few months of an individual's existence; eating, in particular, is a challenge.

  • Tube feeding may be required in the beginning in order to protect the young child from choking on milk and to ensure that they do not become overtired. Because of their frail facial muscles, they will have to produce twice the amount of milk as their more strong counterparts in order to achieve the same level of success.

• Even though the facial muscles will never be normal, both the infant and the older child will eventually learn to swallow sufficiently. However, sucking may continue to be a challenge for them.

  • When a toddler's eating behaviors are not completely developed, there is a greater risk of choking if food becomes lodged in the cheeks. Therefore, throughout childhood, close attention should be paid to the children who have Moebius syndrome when they are eating.

• Any difficulties with aspiration that have the potential to lead to aspiration pneumonia need to be identified as soon as possible and treated with vigor.

• Recognition and treatment of corneal abrasions in their early stages are also essential for preventing corneal scarring. If the baby's eyes are red, they are excessively watering, or they are obviously uncomfortable, you should seek medical assistance right once.

• Speech therapy is of utmost importance for the child diagnosed with Moebius syndrome in order to facilitate the development of speech that is intelligible. It is best to begin doing this at a young age, maybe around 18 months. Because of this, the number of uncoordinated efforts to pronounce words will be cut down to an acceptable level.

  • In addition, parents will have the opportunity to get useful information regarding the most effective ways in which they may assist their child in developing this critical ability.

THE FUTURE

• The kid or young adult affected by Moebius syndrome will not be prevented from participating in a variety of activities. However, a lack of facial expression and possible challenges with articulation may plainly create difficulties for a person in a career or leisure activity that requires them to appear in front of an audience.

• Moebius syndrome patients can have a fairly normal life and lifespan once they have successfully navigated through the early years of the condition.

• Counseling on genetics ought to be made available to the affected families.