What Is Acrodysostosis?

Overview

The term dwarf is very common for describing someone who did not physically grow as they advanced in age. Individuals who fit this description are often characterized by their physical outlook. However, there is more to developmental delays than just having a miniature physique. For example, acrodysostosis affects more than just the patient’s body structure.

Studies have shown that this disease negatively alters an individual’s mental ability. In addition, it also makes them develop resistance to certain hormones that are essential for growth. Several factors come into play in order to understand the factors responsible for this disorder properly. In addition, understanding this medical condition can help to manage cases adequately.

Understanding acrodysostosis

Acrodysostosis is a rare physical disorder that results from an abnormal genetic mutation. For a better understanding, we need to understand how children are formed and grow in the womb. After fertilization, the zygote continually divides into more cells and produces more chromosomes as the baby grows. This process naturally continues till the baby is fully formed.

However, there are certain cases where a genetic mutation alters the natural cell division process. It is often caused by an autosomal dominant mode of transmission. In turn, this results in the formation of proteins that can adversely affect vital organs in the body. This leads to a significant deviation from the developmental stages from fetus to childbirth.

Types of acrodysostosis

There are two primary types of acrodysostosis, and their differences are determined by either the presence of hormonal resistance or the underlying cause.

Below is a brief explanation of the different kinds of acrodysostosis:

Type 1 acrodysostosis

This form of acrodysostosis is due to mutations in the PRKAR1A gene. For a better understanding, this gene facilitates the production of protein kinase. Protein kinase is an enzyme that consists of subunits that serve as control mechanisms for cell growth. As the child grows, these subunits must form away from the enzyme.

If, for any reason, these subunits do not break away, cell growth will be stunted. With hindrance of cell growth, the child will stop developing. Recall that cell division and growth are essential for the baby to form fully. With this process altered, the child will not undergo comprehensive development.

More often than not, this type of acrodysostosis results in hormonal resistance. With protein kinase A turned off, the child will not respond to growth hormones.

Type 2 acrodysostosis

Type 2 acrodysostosis is caused by a mutation to the PDE4D gene. It is caused by mutation to the phosphodiesterase 4D (PDE4D). This messenger plays a crucial role in the cognitive process by controlling the availability of cyclic adenosine monophosphate. By regulating cAMP, PDE4D helps the patients to develop complete memory and intelligence.

While the former is associated with physical outlook, type 2 affects the individual's mental ability. Meanwhile, it is essential to understand that neither of them is mutually exclusive. They can both manifest in the same person at once.

Common signs of acrodysostosis

As mentioned earlier, there are two types of acrodysostosis. Anyone who suffers from either type will most likely experience certain symptoms.

Here are some of the common signs of acrodysostosis:

• Short or miniature stature in adults. Impeded developed in babies or foetus.
• Hands and feet are broader than usual and are also very short.
• The first toe is larger than normal.
• Finger and toenails are very short.
• Shorter distances between backbones.
• Curved spine.
• Low-set or small-sized ears.
• Flattened nose.
• Poor development of facial bones.
• Inadequate mental development leads to poor intelligence.
• Poor memory and unable to remember events.
• Possible obesity (although this is also rare).

While the above features are very obvious, there are several other signs that are not exactly visible. It will take the review of a medical practitioner to uncover them.

Some of them include those below

• Joints and other regions of the bone that connect to other bones have a cone shape.
• Resistance to parathyroid hormones, thyroid stimulating hormones, growth hormone releasing hormones, and gonadotropins.
• Advanced bone age.

When to see a doctor?

Acrodysostosis usually begins to manifest when a child is formed in the mother’s womb. Considering this factor, it is essential that expectant mothers take antenatal visits very seriously. They should visit the doctor for regular checkups to ascertain the current state of their baby.

In addition, adults born with acrodysostosis can also improve their lives by visiting medical experts. While there are no cures for this disease, consulting a doctor can help with solutions on how to manage the condition.

Diagnosis of acrodysostosis

From the discussion so far, it is very easy to tell if someone has or is suffering from acrodysostosis. However, there are still other clinical methods to employ when checking to see if a baby is suffering from this disease.

Some of those methods include the following:

• Observing the physical attributes of the individual.
• Research the patient’s family history to ascertain if there has been a prior case of the disease.
• Conducting pre-natal scans to monitor the baby’s cellular growth.
• Use of X-rays after the child is bone to scan the child’s bone and observe for abnormalities.
• Completion of molecular genetic tests to monitor the cellular growth process.

Management and treatment

Acrodysostosis does not have a cure because it is not exactly a disease. Instead, it is a composition of multiple abnormal features or defects in a human being. Considering this factor, the smartest option is managing the disease and enabling the person affected to live a better life.

There are several experts who are well-educated to improve the person’s ability to engage in regular activities. From neurologists to orthopaedics and ophthalmologists, these professionals monitor the child’s health and develop treatment programs that will help the individual get better. With a combined effort, they can significantly improve the life expectancy of the child.

On their own part, the patients have significant roles to play. Family members of individuals suffering from acrodysostosis are also essential. Children and adults who have this condition will need to make life-long adjustments. For example, they will need to eat healthy foods.

The diets of anyone with acrodysostosis should be filled with healthy sources of protein and vitamins. Meat, fish, milk, beans, legumes, eggs, and so on should be major components of a person’s diet. They can also add whole grains, yams, and potatoes to their meal. Fresh fruits are rich in antioxidants and should be a regular part of the patient’s meal.

As part of better eating habits, people who suffer from acrodysostosis should avoid foods with saturated fats. They should also manage their salt intake by avoiding foods high in sodium. It is essential that they avoid sugary foods like cakes, chocolate, candies, etc.

Depending on the severity of the disease, some people may require clinical treatments. This is usually the case for those suffering from poorly developed cognitive abilities. The treatment is designed to improve their brain function as much as possible.

While undergoing treatment, people may experience the following side effects:

• Feeling nauseous or sick.
• Feverish or running temperature.
• Visual distortions.
• Sour or bitter taste in their mouth
• Ear infections.
• Very severe headaches.

FAQs

Can scrodysostosis be inherited?

Acrodysostosis can be passed down from a parent with a dominant or an acrodysostosis gene. It is also possible for acrodysostosis to occur even when neither parent has an acrodysostosis gene. Genetic mutations also occur spontaneously.

What is the cure for acrodysostosis?

There is no cure for acrodysostosis as it is not just one disease. Instead, it is a conglomeration of multiple abnormalities. Therefore, the treatment of this condition is a life-long process for managing its symptoms.

When should you see a doctor?

Mothers should go for regular checkups when pregnant. Adults should also visit the doctor for advice and medical assistance.

What are the major symptoms of acrodysostosis?

The major symptoms of acrodysostosis include the following:

• Miniature stature.
• Short or stubby fingers and toes.
• Poorly developed facial bones and muscles.
• Curved spine.
• Small or flattened nose.

How do you diagnose acrodysostosis?

People can use the following methods to diagnose acrodysostosis:

• Observing physical features.
• Undergoing pre-natal scans.
• Conducting X-rays after giving birth.
• Completing molecular genetic tests to check for cellular abnormalities.

Is acrodysostosis more prevalent in a particular gender?

Research has shown that everyone is at risk of gene mutation during pregnancy. There is no study that proves that acrodysostosis is more prevalent in males or females. Therefore, both males and females can suffer from this disease.

What are the chances of developing acrodysostosis?

Acrodysostosis is a very rare disease and is very uncommon. It occurs in less than 5% of the global population.

Conclusion

Although it is a very rare disease, there are still people suffering from acrodysostosis. While this disease can be inherited, there are also cases of spontaneous mutation. This condition is a composition of abnormalities, and there is no scientifically proven cure. Instead, patients can work with medical experts to develop a life-long treatment plan that will increase their life expectancy.