Acrodysostosis: Causes, Symptoms, Treatment, Diagnosis

What is Acrodysostosis?

Acrodysostosis is a rare form of a genetic disorder in which bone growth is primarily affected and is present in the child since birth. Both male and female part of the population is equally affected by Acrodysostosis.

Since Acrodysostosis is a rare form of the disease, the early symptoms might go unnoticed by the parents. People affected by Acrodysostosis generally exhibit signs of skeletal malformations. Their toes and fingers are smaller than usual giving rise to a kind of abnormality. Their face also displays abnormalities especially the bones in the middle portion. In a lot of children, the intellectual growth slows down. Other parts of the body also stop the process of growth. There are also children whose body doesn’t respond to or sometimes resist certain hormones that are through the hormone might actually be functioning properly the tissues of the body do not adequately respond to them. The tissues lose that sense of responsibility. The symptoms become alarming to others around the child only when he grows up as with age the symptoms like short and thick fingers and toes become more prominent. All these severely affect a child’s normal life.

Acrodysostosis primarily occurs due to the mutation of certain genes. Mutations in PRKARIA1A gene (type1) or PDE4D gene (type2) is suspected to be responsible for giving rise to this genetic disorder. The mutations cannot be said to be continued throughout a family history and are quite unpredictable occuring irregularly. Mutations in the PDE4D gene (type2) happen in an autosomal dominant manner. The exact factors which give rise to Acrodysostosis are still not known to the medical science. Nevertheless, research is going on. In many cases, the faulty diagnosis did or sometimes the symptoms go entirely undiagnosed, due to which the actual frequency of Acrodysostosis is still undetermined.

Causes of Acrodysostosis

The genes in our body play a very important and crucial function. The mutation in the PRKAR1A gene or the PDE4D gene is primarily responsible for causing Acrodysostosis. These genes under normal circumstances create proteins that have a heavy and critical influence on one’s body. The mutations in the gene cause unwanted complications like the product that emerges out of the protein can be faulty, not much efficient or it can simply be absent, all of which disrupts the normal functioning of the body.

Different proteins produced within the body help in proper functioning of important organs like the brain. When the protein production is not what it was expected to be, it can have a severe effect on the brain and its development.

The gene mutations are irregular and not predetermined. If the child has Acrodysostosis it doesn’t mean that the parent too is affected by it. Sometimes while the creation of sperm or egg for the child the gene mutations might happen. However sometimes, an affected parent can also be responsible for the passing down Acrodysostosis. This is known as dominant inheritance and the disorder is Acrodysostosis type2. Sometimes an abnormal gene is passed on by one of the affected parents and chances are 50%. The gender of the child doesn’t matter.

The research in this field has been conducted for quite some time and has revealed some valuable information. It is on the long arm (q) of chromosome 17 that PRKARI1A is found. Further investigation revealed that PDE4D gene is situated in the long arm of chromosome 3. These chromosomes are the ones which possess the individual genetic information. The mutation in the genes causes severe changes which cannot really be changed after birth.

Determining Acrodysostosis is quite difficult. The people who are affected by it are widespread in population. If not detected early, the complications might transform into bigger problems. Though it cannot completely be cured, it can be arrested and treatment can help the patient live a normal life. The bodily changes can create a lot of obstacles in the path of growth and functioning of the affected child.

Signs and Symptoms of Acrodysostosis

The signs and symptoms of Acrodysostosis go unnoticed in a lot of cases. However the detection is absolutely necessary. One of the major symptoms of Acrodysostosis is the visual deformations on the body. The bones are not well-formed; they are short, thick and abnormal. The spine is affected giving rise to scoliosis which can severely hamper the child’s growth. The arms remain small. Since the bones are mainly affected in the feet, toes and finger remains undeveloped. The spaces within the spine go through a lot of crucial changes. Those spaces do not open up but instead narrows down.

Alongside the bone structure, the face too is affected. The upper jaw remains underdeveloped giving rise to maxillary hypoplasia. The nasal bridge is flattened or doesn’t attain the normal size and instead attains a depressed stature. This condition is known as hypertelorism. The ear and the epicanthal folds or the extra fold of skin covering the inner corner of the eyes are also extremely affected [1].

In some children, intellectual disability occurs. This symptom is difficult to notice. Intellectual disability stops the child from learning properly and accurately. Sometimes the development doesn’t happen on time and happens at wrong phases which don’t allow the child to be like the other children around him. Sometimes this development is quite slow.

The body also resists quite a lot of hormones in many cases. The resistance to parathyroid hormone and thyroid stimulating hormone is quite critical. In some cases, the urethra gets affected.

Though the scientists have been able to determine “core” symptoms, various other factors are still undetermined and largely unknown. One of the important knowledge that the researchers circulate is the fact that due to the unknown areas the symptoms may vary and might not be the same in the patients. One child might experience developmental complications while others might possess short fingers and toes and while others might have completely other symptoms which aren’t yet discovered by medical practitioners. Thus caution must be taken while determining the symptoms and its effects. Sometimes the same symptoms might be an indication of some other disease entirely.

Prognosis for Acrodysostosis

Since sufficient information is yet not available the prognosis is not available for Acrodysostosis.

Treatments for Acrodysostosis

The treatment for Acrodysostosis can be determined only upon the particular symptoms that the individual is showing up. Considering the fact that the symptoms are unique to every individual, there are several specialists who will be determining the treatments and focusing on the diagnosis. Pediatric Endocrinologists treat the imbalance in the hormones while the Orthopaedic surgeons diagnose and prevent the abnormalities present. Likewise, there are orthodontists, Neurologist, physiotherapists, and other specialists involved in the treatment [2]. As for the treatment protocols, there is no particular set of standard for guidelines to be followed. Considering the gravity of Acrodysostosis, the treatment trials have not been tested on a large group of patients. Several treatments have them in the discussion though.

Conclusion

There is also much other disorder relating to Acrodysostosis. Care should be taken while treating the child. Acrodysostosis is a severe disease and affects not only the child but also the parents and people surrounding him. After diagnosis special care has to be taken of the child. Any kind of delay and faulty treatment will lower the child’s risk of living a happy and normal life. Therefore parents need to be aware and take adequate and sufficient care of the child.

References:  

  1. Linglart, A., Fryssira, H., Hiort, O., Holterhus, P., Perez de Nanclares, G., & Argente, J. et al. PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct
  2. Syndromes with or without GPCR-Signaling Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism, (2012). E2328-E2338. doi: 10.1210/jc.2012-2326 Silve, C., Le-Stunff, C., Motte, E., Gunes, Y., Linglart, A., & Clauser, E. Acrodysostosis syndromes. Bonekey Reports, (2012). 225. doi: 10.1038/bonekey.2012.225

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