A rare genetic condition that impacts the development of the child’s face, arms, and hands is called Nager syndrome. People with this syndrome have distinct facial characteristics due to a genetic mutation. Moreover, this syndrome does not affect the child’s intelligence. Doctors usually can treat this condition, and in most cases, the prognosis of this condition is good.
This syndrome is also known as acrofacial dysostosis 1, Nager type. Besides underdeveloped bones in the face, hands, and arms, it may also cause hearing loss, developmental delays, speaking problems, and others.
In general, this is a very rare syndrome, and the exact number of people who have it is not known. Nowadays, there are more than 100 cases in the medical literature.
Symptoms
While it primarily affects the development of the face, hands, and arms, it may also cause other symptoms. Check some general symptoms of Nager syndrome below:
- Cleft palate
- Down-slanting palpebral fissures (downward slanting eyes)
- Micrognathia (small lower jaw)
- Malformed or missing thumbs
- Small ears
- Malar hypoplasia (underdeveloped cheekbones)
- Short forearms (missing radius bone) and short range of motion
- Curved or webbed fingers
Rarely, this genetic disorder may negatively affect some organs, including the heart, kidneys, genitalia, and urinary tract. Furthermore, Nager syndrome may cause some additional symptoms due to underdeveloped bones. For example:
- Blocked airways
- Problems with feeding
- Delayed speech development
- Hearing loss
Immediately contact your healthcare professional if you suspect your child has symptoms of this syndrome. Early detection and treatment may improve the chances of a good outcome.
Causes and Risk Factors
Healthcare professionals have identified that about 50% of cases occur due to a mutation in the SF3B4 gene. The rest of 50% inherit the abnormal gene in an autosomal recessive form, where the gene mutation has not been identified.
This genetic disorder may affect anyone with a specific gene change (mutation). While this gene mutation may occur randomly during fetal development, it may be passed on during conception from biological parents. In most cases, it happens after a new genetic mutation. In addition, the abnormal gene can be passed to the baby from one biological parent (autosomal dominant) or both biological parents (autosomal recessive). When children have Nager syndrome, but parents do not have symptoms of this condition, the abnormal gene has been passed from both parents in an autosomal recessive pattern. In addition, if you have a child with this syndrome, there is an increased risk of this condition in future pregnancies.
Is There a Way to Prevent Nager Syndrome?
Unfortunately, this is a genetic condition, and it cannot be prevented because doctors do not fully understand what exactly causes it. The only thing you can do is genetic tests before pregnancy to make sure you do not have the abnormal genes that cause Nager syndrome. Generally, it is very important to understand the risks of having children with this condition.
Diagnosis
First, doctors perform a physical examination to check for irregularities linked to the disease. They may also perform an X-ray to examine the bones formed in the baby’s face, arms, and hands. However, to confirm or rule out Nager syndrome, doctors usually perform genetic tests to check for the abnormal gene that causes it. To perform this test, doctors need to take a sample of blood. In a laboratory, physicians will examine the blood sample for DNA changes, chromosomes, or proteins often present in people with Nager syndrome.
Treatment
Physicians usually prescribe different treatments for people with this syndrome. It depends on the severity of the symptoms, overall health, age, and preferences. One of the primary treatments for people with this condition is surgery to fix the abnormal bone development. Check some types of surgery below:
- Tracheostomy – During this procedure, surgeons will make an opening in the throat and place a tube that helps the child breathe.
- Gastrostomy – In such cases, the opening is created in the child’s stomach to place a feeding tube that helps get enough nutrients required for survival.
- Tympanostomy – This surgery is often recommended by doctors to treat hearing problems. It involves placing tubes into the ears to prevent ear infections and improve hearing. In some cases, doctors may also recommend hearing aids, but it depends on the severity of the condition.
- Craniofacial surgery – This surgery is used to address any physical differences in your child, including a cleft palate, underdevelopment of the jaw, sloped eyes, and others.
Additional Treatment
Usually, people with this syndrome also need the following therapies to improve the symptoms. Check some examples below:
- Physical therapy – It is used to improve mobility (especially walking)
- Speech therapy – Usually, people with Nager syndrome have speaking problems due to hearing loss. This therapy helps improve vocal developmental delays.
- Psychosocial therapy – This treatment is often used to entire family provide guidance and support for everyone who develops a mental disorder.
- Genetic counseling – A genetic counselor often assesses the risk of having a child with Nager syndrome and provides support before, during, and after pregnancy.
What is The Difference between Nager Syndrome and Miller Syndrome?
While both conditions (Nager syndrome and Miller syndrome, also known as postaxial acrofacial dysostosis) cause similar symptoms, there are some differences between them. For instance, Nager syndrome often affects the face, arms, and hands, but Miller syndrome often impacts the feet. Moreover, Miller syndrome occurs due to a mutation in the DHODH gene, but Nager syndrome occurs due to a change in the SF3B4 gene.
Frequently Asked Questions
When should I see my healthcare provider?
Immediately contact your doctor if you notice your child has distinct facial characteristics or other symptoms. Early diagnosis and proper treatment may improve the prognosis of the condition, and the child will be able to grow up alongside their peers. If your child gets treatment as soon as possible, he/she may have a normal life expectancy. Check below some symptoms that indicate you should see a doctor:
- The child does not respond to basic commands or has hearing problems
- Missing all developmental milestones
- The area around the surgical site swells, changes color, or leaks a yellow or clear fluid
If I have a child with Nager syndrome, will my future children get the condition?
Yes, there is an increased risk of having future babies with the same syndrome. To understand the risks, you should perform a genetic test before pregnancy.
What is the life expectancy of someone with Nager Syndrome?
Generally, with treatment, individuals with Nager syndrome can expect a normal lifespan. However, if he/she do not get treatment, it may lead to malformation and serious health problems that will reduce their life expectancy. If you have additional questions, ask your healthcare provider.
