Introduction

Deoxyribonucleic acid (also known as DNA) stores genetic information and passes it to the next generation; it is found in living organisms. A living being performs various functions, develops as a full being, and comes into existence with the help of DNA.¹

The specific type of sequence is mandatory for DNA to work normally, and whenever any change in the DNA sequence occurs (mutation), the body does not function normally.²

In Albepharon-Macrostomia syndrome (also known as AMS), mutations happen in the TWIST2 gene, mainly responsible for bone formation, many eye part (internal and external), and many other functions. It can happen on its own, and then there is a 50% chance is there of its transmission to the next generation.³

AMS causes various deformities in various body parts, and along with that, it also delays language and cognitive development.⁴

The fundamental definition of a healthy lifestyle contains a few basic terminologies, like as socialize, being active in physical activities, and avoiding drugs. AMS patients experience challenges at both fronts, i.e. physical and mental.^5,6

Complications associated with Albepharon-Macrostomia syndrome

To understand how the Albepharon-Macrostomia syndrome impacts the quality of life of the patient, you need to know the details of the complications that are associated with the AMS, and those are as follows

Head and neck region

Eyelids are found to be absent (medically called albepharon), the mouth is widened than a normal person's (macrostomia), eyelids are completely lacking and skin from the forehead is attached to the cheek and covers the eye(s) (cryptophthalmos), eyelids might be underdeveloped (hyperplasia of eyelids, nasal shape is distorted, absence of eyebrows is common, distance between the eyes increases as the nose bridge becomes wider, and the upper lip is found to be shortened in many cases. Hearing ability gets impaired, and the position of the ears is found to be abnormal.

Limbs related abnormalities

The little finger loses its normal shape and bends towards the fourth finger (clinodactyly of the fifth finger), the foot bones get malformed and the feet become curvy (clubfoot), two fingers get fused (syndactyly), and toes also get fused (toe syndactyly). There are metacarpal bones in the hand skeleton; among the AMS sufferers metacarpal bones are smaller than the other hand’s metacarpal bones.

Outer skin-related issues

In AMS patients eyelashes can be absent, natural moisture is seen less than in the normal person, fingernails are not found fully developed, skin wrinkles are way more than the others in the same age group, skin that sags over the body part is common too, density in the hair reduces, and thickness of the skin decreases.

Muscles and skeletons experience abnormalities

Abnormal development of a bone named cheek cheekbone is found, which causes the eyeballs to sink deeper in the orbitals, jaw locking might be experienced by the AMS patient, and the patient experiences the problem of viewing two images of one object. Fingers in the AMS patients might not get fully stretched in a straight manner. Under the base of the umbilical ring, the internal organ forms a hernia and is covered with a membrane, and another condition in which the weaker part of the abdominal wall allows the internal content of the abdominal region to protrude.

Other abnormalities

New babies have a layer of soft hair on the body, which is found absent among the AMS patients, nipples are underdeveloped, the position of the anus might be on the frontal side, i.e. distance between the genitals and anus decreases (mainly in AFABs), urethral opening, in many cases, is found at the underside of the penis.

A typical condition known as ambiguous genitalia is found as the assignment of genitals is difficult at the time of birth, growth of labia majora gets affected as well, and at birth the penis size is not normal as compared to unaffected babies. Skills of language, even speech, and cognitive development are delayed.^3,4

Lifestyle gets impacted by AMS

Since you know the complications associated with the AMS, their impacts on the lifestyle are easier to understand. AMS does not allow the patient to socialise, be active in sports, or be active in brain activities. Details on the mentioned impacts and secondary impacts related to the complications are as follows.^7,8

Impact due to decreased physical ability

AMS patients can not be active in many sports activities, which is considered one of the basics of a healthy lifestyle. This is mainly due to many skeletal deformities, like twisted feet. Lack of physical activity complicates the condition further and leads to diabetes and obesity. 

Other complications such as thickening of the blood, a lack of exercise, and an increased in the risk of blood clotting. This might be even more life-threatening than obesity, and the ability of blood to clot excessively can be the culprit in cardiac arrest and/or stroke.

Moreover, it exerts its impact on the muscles, which is a well-known fact, however, it also impacts the health of bones, as bones lose their integrity, and the bones become thin and brittle due to a lack of exercise. Movement of the joints gets very much limited in the patients, and the risk of bone fracture increases, as they are more prone to fall.¹¹

One of the important aspects of a healthy lifestyle is to have adequate exposure to sunlight that allows our body to form vitamin D. Vitamin D is important for the absorption of calcium in the body, which is further involved in many other activities. However, due to the issues related to eyelids (i.e. underdeveloped or absent eyelids), it is not always easy for AMS patients to have sunlight exposure ¹³

Impact due to impaired cognition

Cognitive impairment is also found in the AMS patients, which impacts the lifestyle in a huge way and from a very early age. There is a delayed learning of basic skills in the patients, like language and speech, which initiates negativity in the child’s thoughts.

This continues to the educational institutes as well. The patient does not just face difficulty in competing with the classmates; in fact, many times, patients might not get a chance to even get enrollment in the schools that are designed for the unimpaired students.

As far as occupational aspects are concerned, patients experience impediments here too. As you have already read, education is not easy to get for a patient with impaired cognitive ability; it certainly impacts the kind of jobs the patient would get. Moreover, biases exist, so even if a candidate is suitable for the job, biases might be an obstacle there.²⁰

Impact due to mental health

A positive attitude helps you be fit mentally, and this can be achieved by finding support from family and friends, involvement in the community, having a special trait of being inquisitive, and healthy intimacy.

However, in many cases, patients with facial disfigurement have reported feeling uncomfortable while socialising, and have felt forced (indirectly) to stay alone. This makes them anxious, and many depressive patients have also been observed.¹⁶

There many AMS cases in which genitals get impacted, such as underdeveloped penis, and an opening at the penis to pass urine is found at the underside of the penis, this might serve as a barrier for the patient in establishing a healthy relationship with his/her partner.

In some cases, lack of awareness worsens the situation, and negativity in the thoughts is very common, as the patient might feel self-conscious. Many studies support the fact that depressive patients mostly do not feel a sense of belonging in relationships.¹⁷

The patients with high levels of symptoms related to depression are found to be more aggressive and unwilling for collaborative activities with unknown or even known candidates of a similar age group: found in an observational study.

Thereafter, another advanced stage of depression is observed in which patients are found to have more dull responses towards the negative and even positive reactions of others; it is considered a kind of sensitisation to social interaction. This happens because of the biases in the information processing.¹⁸

Another reason for negative thoughts among the patients is the fear of transmitting the disease to their next generations.

Various physical complications are the reasons a patient cannot perform the normal roles of daily life, as an unaffected person performs. This further pushes the patients towards mental illness.

One of the patients with disabilities has also reported that even opportunities are not equal, as a biased approach, based on the disfigurement, exists in society. He mentioned that society seems to be designed in a way to cater to the people belonging to the “normal category”.¹⁹

Summary

Deoxyribonucleic acid (DNA) stores genetic information, essential for the body to perform functions and even exist. Any changes in the sequence of genetic information are called mutations, which happen in the TWIST2 gene and Albepheron-Macrostomia syndrome (AMS) takes place.

It affects the patient in many ways, such as the eyelids are found to be underdeveloped, the mouth gets wider, speech and cognition delays are there, and the genitals also get affected. This may impact the lifestyle of the patients on various fronts.

The patients find it difficult to keep their bodies fit as physical activity is not as normal as in their peers, and other health complications, like obesity, diabetes, and thickening of the blood, arise. This also does not allow the patients to socialise.

As developmental delay is found there as well, this affects the patient's education and then occupation; this way, it affects the quality of life a person lives.

All these aspects take a toll on the mental health as well, and negativity in the thoughts arises, which leads the patients to depression. This further intensifies the already rare people interactions.