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Abstract

Ashah211/sandbox

Rapadilino syndrome is a condition that involves the underdevelopment of bones. It is an autosomal recessive congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints. It is more prevalent in Finland than elsewhere in the world. The RECQL4 gene is mutated to cause the Rapadilino Syndrome. The RECQL4 gene is mutated and it does not make the enzyme RECQ Helicase. The most common RECQL4 gene mutation involved in RAPADILINO syndrome causes the RECQL4 protein to be pieced together incorrectly.

There is an interesting way this condition was named. It was named using all acronyms for different parts of the disease. RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.

Mechanism

This condition is brought upon by a genetic mutation that seemingly occurs in predominantly jewish populations found in Finland. It is caused by a mutation in the RECQL4 gene. That specific gene gives the instructions to produce a RecQ Helicase. The parts and regions of the body that are most affected are the bones of the forearms, thumbs, upper palate, nose, and dislocated joints. In a few cases it has also been reported that infants have anal fistulas. The first signs of having Rapadilino Syndrome are seen in infants who have trouble feeding and experience diarrhea and vomiting.People with Rapadilino Syndrome are at increased risk for a cancer of the bone known as osteosarcoma.

Symptoms    

The most common symptoms associated with Rapadilino Syndrome are absence of the bones in the arms and forearms which are called radial ray malformations. There can also be an underdevelopment of bones in the patellar region, opening in the roof of the mouth, nose, and various joints. Many individuals with Rapadilino Syndrome present scoliosis as well. They have arched backs, almost like a hunchback. Individuals are usually short in stature and have absent bones.

Diagnosis 

Cleft palates are common in infants with Rapadilino Syndrome

One way to determine if an individual is a carrier is to test their DNA for the RCQL4 gene to see if it is mutated or not. Geneticists would have to perform a sequence analysis of the entire coding region. When an infant presents with difficulty feeding, diarrhea, absence of bones in the forearms and patellar region, or cleft palate it is speculated to be Rapadilino Syndrome. This is when the doctor determines a genetic test is necessary. To correctly diagnose it is Rapadilino Syndrome, doctors would have to run sequential analysis of the patient's DNA to see if the RECQL4 gene is mutated. RECQ Helicase is a family of helicase enzymes initially found in Escherichia coli that has been shown to be important in genome maintenance.

Causes and Prevention 

This disease is known to be passed on as an autosomal recessive disorder. This means that two mutated genes are inherited, one from each parent. There is no way to prevent Rapadilino Syndrome as of now. However, scientists are working on ways to treat these patients The underlying conditions most of these patients present with are cleft palate and diarrhea in the infants. Also, a great indicator is when development slows and the baby's spines are not growing at a normal pace.

This disease does not spread in an airborne or sexually transmitted way, however it does get passed on inherently. A gene mutation in the patient's DNA causes this disease. Since this disease is autosomal recessive, there are certain precautions individuals can take to prevent Rapadilino Syndrome. Getting genetic testing done before conceiving a child is the best way to know the risks of passing on the faulty genes. Autosomal recessive genetic disorders occur because both parents of a child each have one copy of a particular mutated gene. Because they are carriers and do not have the actual disorder, parents may not even realize there is a risk for a particular condition until their child is born with it.

Treatment and Prognosis 

Treating patients with Rapadilino Syndrome can be quite difficult. Surgeries to fix the cleft palate can be undergone or to even surgically place an artificial bone where there is an absence. Prognosis for a patient with Rapadilino Syndrome is quite bleak. Many patients develop osteosarcoma or a blood-related cancer called lymphoma early in their lives. Growth hormone therapy is suggested in patients with Rapadlino Syndrome however there have not been many successful cases to make it a sure-fire treatment option.

There are possible surgeries that can fix the spinal cord and straighten it out. Although, there is no account of patients having tried this form of treatment.

Recent Research 

There is research on Rapadlino Syndrome that discusses the role of the RECQL4 gene in Rapadilino Syndrome and other disorders. It also says that cancer is not strongly associated with Rapadilino Syndrome as it could be with other disorders that are commonly associated. This research done by Dr. Kopra says these patients are a genetically heterogenous group and that patients with mutations in RECQL4 belong to a osteosarcoma prone subgroup.

More research indicates that there may be certain ways to treat Rapadilino Syndrome, however as of now there is no known cure or treatment option that has proved to be effective. Growth Hormone treatment is a hormone that is secreted by the anterior pituitary gland and targets most cells in the body. Dr. Daryl McKee of the UNT Health Science Center has led the research on using Growth Hormone treatment for Rapdilino Syndrome patients. This article was from 2016 as it is one of the more recent publications on this issue.

External links

• GeneReviews/NCBI/NIH/UW entry on Baller-Gerold Syndrome