If you’re a parent of a child with Nager syndrome, it’s helpful to know the symptoms and genetic mutations that cause this condition. This rare genetic disorder results from problems with the development of the first branchial arches, which are responsible for the lower jaw and the first two middle ear bones. The second branchial arches produce facial muscles and the bone in the middle ear, which is the most external part of the ear.
Nager syndrome is an autosomal recessive trait
Although Nager syndrome is autosomal recessive, it can also be inherited from either parent. In families with one affected parent, a de novo mutation in the SF3B4 gene is more likely than in families with two affected parents. The cause of Nager syndrome is unclear, but the SF3B4 gene has been implicated in several other hereditary disorders.
Although the exact number of people affected by this disorder is unknown, the prevalence of the disease is between two and three percent. Researchers believe the number is much higher. The disorder is inherited through an autosomal dominant gene, but there are also other genes that are believed to be involved. Nager syndrome affects many organ systems, including the brain, eyes, heart, and lungs. If you have the condition, you should know the cause and be able to identify your symptoms and find a doctor who can help you with your condition.
In our family, we discovered that one of the affected individuals in our family had a rare acrofacial disorder called Nager syndrome. In this family, seven of 12 multiplex families had a pathogenic heterozygous variant. The affected proband had severe micrognatia during pregnancy, and the proband’s limbs were preaxially malformed. Both parents were not aware of the diagnosis until after the birth of the proband.
There is no clear cause of Nager syndrome, but genetic studies have found that more than half of cases are caused by SF3B4 gene mutations. This gene produces a protein called SAP49, which is a member of the spliceosome complex, which processes messenger RNA, which is the genetic blueprint for making proteins. It also helps regulate the activity of genes in the BMP pathway. As a result, it may lead to the abnormal development of bones.
It is caused by genetic mutation changes
The SF3B4 gene is responsible for the majority of cases of Nager syndrome. This gene provides instructions for producing the SAP49 protein, which is part of the spliceosomal complex. This complex processes messenger RNA, a chemical cousin of DNA, which serves as the genetic blueprint for making proteins. Mutations in the gene cause inefficient or defective protein function, which can affect many organ systems.
Although the exact number of people who are affected by Nager syndrome is unknown, it is believed that it affects around 200 to 300 people around the world. The condition is primarily caused by a single gene, SF3B4, but other genetic mutations may also be responsible for the condition. Regardless of the genetic cause of the syndrome, treatment is geared to the symptoms specific to each individual patient. A multidisciplinary team that specializes in the condition may be needed to determine the most appropriate treatment for the individual.
Although Nager syndrome is often hereditary, genetic testing may be required to make a definitive diagnosis. Testing for the SF3B4 gene mutation is possible, and can only be performed at specialized laboratories. Other testing options include x-rays to confirm whether certain craniofacial abnormalities exist and how severe they are. These images will reveal an underdeveloped cheekbone and abnormally small jaws.
In addition to being a hereditary disorder, Nager syndrome can result in abnormalities of the hands, arms, and elbows. Typically, affected individuals have an underdeveloped or missing radius bone, causing the fingers to bend inwards towards the body. Additionally, their forearms may not fully extend and have cleft palates. During their early development, these malformations can lead to breathing problems and a variety of other symptoms.
It causes hearing loss
Children with Nager syndrome are usually born with a genetic disorder that affects the ears, which can lead to bilateral conductive hearing loss. Other symptoms may include speech difficulties and upper respiratory airway obstruction. Although the cause of Nager syndrome is still unknown, experts believe that the disorder affects as many as 200 or 300 people worldwide. Although genetics are unknown, the disease is thought to have several other causes, including environmental factors.
Despite its rarity, the condition can affect the ears and hands. In addition to hearing loss, the condition can cause malformations in the hands, arms, and face. A child born with Nager syndrome may also have a cleft palate or a malformed ear. While intellectual ability is not impaired, the condition can delay communication and lead to a delayed birth. Corrective surgeries are likely to begin shortly after birth.
Several genes are involved in the underlying genetics of Nager syndrome. Mutations in the SF3B4 gene are the most common cause. This gene produces proteins which play important roles in the body. When the gene is affected, these protein products can be faulty, ineffective, or absent. Various organ systems are affected, including the ears and nerves. As a result, hearing loss in children with Nager syndrome can be a lifelong challenge.
There are also physical characteristics of the disease. In addition to hearing loss, Nager syndrome can cause other physical defects of the hands and arms. The missing radius bone in the hand causes the hand to bend inwards toward the body. Additionally, the elbow and shoulder girdle may be abnormal. The heart and urinary tract may also be affected. In some cases, children with Nager syndrome will also have abnormal limb bones and the ear.
It causes cleft palate
Nager syndrome, also known as acrofacial dysostosis, is a genetic disorder characterized by malformation of the face, hands, and arms. It can be mild, moderate, or severe, depending on the individual affected. Children with this disorder are born with underdeveloped cheek bones and incomplete development of the lower jaw. Many of these children have cleft palates. Some patients also have a condition called micrognathia, which can lead to life-threatening breathing problems.
Children with this disorder have a high risk of developing speech problems and other speech defects. A polysomnogram is required to diagnose this disorder. Parents and pediatricians should monitor their children for OSA symptoms throughout childhood and beyond. They should also seek early medical care if their child experiences any speech or language difficulties. A polysomnogram is a useful tool in diagnosing this condition, as it can help physicians better plan treatments.
In addition to cleft palate, children with this condition may have serious internal malformations, including those of the heart and kidney. Rare symptoms include diaphragmatic hernia (an abnormal connection between the chest and abdomen), as well as underdeveloped larynx and skeletal anomalies. Nager syndrome can lead to hearing loss. However, it is still possible for babies with this disorder to live normal lives with a cleft palate.
Treatment for Nager syndrome depends on the severity of the symptoms and the impact on the child’s daily life. After the surgical procedure, children with this condition may require long-term monitoring during their growing stages. Treatment usually ends in the mid-twenties, but some children may need additional psychological support. Headlines is a UK support organisation for children with this condition. These parents can obtain support from the Headlines Association for Nager Syndrome.
It causes severe development problems
While the cause of Nager syndrome is unknown, it is believed to be caused by a mutation in the SF3B4 gene. This gene provides instructions for creating proteins, which play a crucial role in many functions of the body. When the SF3B4 gene becomes mutated, the resulting protein products may be missing, defective, or even faulty. As a result, the functions of many organ systems may be affected.
Affected arms and hands may have bone abnormalities. The radius bone is underdeveloped, causing the hand to bend inwards. Hands may be short or webbed, and the thumb may not develop properly. The heart and genitalia may also be affected. Children with Nager syndrome often experience problems with grip and coordination. Nager syndrome is usually diagnosed during the child’s early childhood. Children with Nager syndrome are at high risk for developing a number of physical disabilities.
The condition has been reported in nearly 4,000 patients worldwide. The genetics of Nager syndrome remain unclear, but the cause of acrofacial dysostosis remains unknown. Several rare diseases are linked to the development of acrofacial deformity. Genetic testing is required to confirm the diagnosis. The genetic test known as SF3B4 will reveal whether the disease is autosomal dominant.
The SF3B4 gene is the cause of more than half of the cases of Nager syndrome. The gene provides instructions for the SAP49 protein, which is part of the spliceosome complex. The spliceosome processes messenger RNA, a chemical cousin of DNA that acts as a blueprint for making proteins. This process can leave out introns, which can cause severe developmental problems.