What Is Nager Syndrome?
Doctors Nager and De Reynier discussed Nager syndrome in the medical literature in 1948. Acrofacial dysostoses, or AFDs, are diseases that include Nager syndrome. Anomalies of the limbs and craniofacial system define these illnesses. AFDs are often classified as preaxial or postaxial varieties.
The craniofacial malformations include incomplete development of jaws, small malformed ears, underdeveloped cheekbones, and absent ear canals, which results in hearing impairment. The limb abnormalities are mainly on the thumb (radial) side of the hand and forearm, such as abnormal fusion of bones in the forearm, absence of radius bone in the forearm, and underdevelopment of the thumb. The feet and fingers are typically healthy. Usually, intelligence is unaffected. Changes in the SF3B4 gene are the primary cause of Nager syndrome, which is frequently inherited in an autosomal dominant form.
Who Gets Affected by Nager Syndrome?
Males and females who have Nager syndrome are both affected equally. It is uncertain what the exact incidence and prevalence are in the general population. The true prevalence in the general population is difficult to ascertain because many instances go undetected or are incorrectly diagnosed.
What Are the Symptoms of Nager Syndrome?
The child's face, hands, and arms will develop differently if children have Nager syndrome.
The genetic condition's symptoms include the following:
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Small ears.
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Small lower jaw.
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Downward slanting eyes.
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Malformed thumbs.
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Underdeveloped cheekbones.
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Short forearms.
Some of the rare birth defects involve kidneys, heart, and genitalia.
The symptoms of Nager syndrome have side effects, including:
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Delayed speech development.
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Blocked airways.
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Feeding problems.
What Are the Causes of Nager Syndrome?
Mutations in the SF3B4 gene are the primary cause of Nager syndrome. The instructions for making proteins, essential to numerous bodily processes, are provided by genes. A gene mutation might produce a defective, ineffective, or nonexistent protein. This can have an impact on a variety of body organ systems depending on the specific protein's functions. Nager syndrome is inherited as an autosomal dominant disorder because people with Nager syndrome have an alteration in just one copy of the SF3B4 gene.
Most cases include new mutations that develop in just that child's egg or sperm, with no other family members being impacted. However, even if a person has Nager syndrome for the first time in the family, there is a 50 % chance that they will pass it on to their offspring. Previous reports of siblings with Nager syndrome being born to parents who appeared unaffected could represent a different recessive form of the condition, but this is more likely because the condition was overlooked in a parent who was only mildly affected or because the parent had a gene change that only affected their ovary or testis.
How Is Nager Syndrome Diagnosed?
Identifying distinctive physical characteristics, a thorough clinical assessment, and a complete patient history all contribute to diagnosing Nager syndrome. The majority of the related defects are congenital or present at birth. Testing for molecular genetic markers can support a Nager syndrome diagnosis. The SF3B4 gene mutation can be found through molecular genetic testing, although this service is only offered as a diagnostic at a specialized laboratory.
How Is Nager Syndrome Treated?
The specific symptoms that each person exhibits with Nager syndrome are targeted for treatment. The coordinated efforts of a group of professionals may be necessary throughout treatment. To systematically and thoroughly plan a child's care, oral surgeons, pediatricians, plastic surgeons, pediatric otolaryngologists, specialists in the diagnosis and treatment of eye, ear, and throat conditions, specialists in the diagnosis and treatment of hearing loss (audiologists), psychologists, and other medical professionals may be required. Referrals to craniofacial centers may be advantageous for those who are affected.
A specific form of treatment called a tracheostomy involves surgery to make a small incision in the throat through which a breathing tube is put. When a baby has trouble eating, surgery may be required to make a tiny incision in the stomach to insert a feeding tube to ensure sufficient nourishment.
The correction of the jaw, limb, and ocular anomalies may need surgery. Surgery or speech therapy may be required when a cleft palate or cleft lip is present. Surgery may be necessary for skeletal anomalies, including rib abnormalities, scoliosis, and restricted elbow range of motion. Surgery is frequently needed for congenital cardiac abnormalities. It is advised that affected individuals and their families get genetic counseling. Additionally important is the need for family psychosocial support.
How to Manage Symptoms of Nager Syndrome?
Early detection and treatment of the condition's symptoms lead to positive results.
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Physical Therapy: It will assist the child in becoming more mobile, particularly in walking and using their hands.
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Speech Therapy: If the child has hearing loss, it may delay or hinder their speech development. Any delays in voice development are addressed in speech therapy.
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Psychosocial Treatment: Psychosocial therapy is available to the child and the entire family to provide direction and support for everyone's mental health.
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Genetic Counseling: Genetic counselors determine the likelihood of giving birth to a child with a genetic disorder, provide assistance before and during pregnancy, and offer advice on care and wellness following the child's birth.
Conclusion:
Children born with Nager syndrome have a good prognosis with early intervention and treatment. Although the etiology of genetic mutations is unknown, the condition-causing gene can be passed from parent to child. The child will be able to develop generally along with their classmates and have an average life expectancy with the help of treatment and early intervention to manage the condition's adverse effects. It is crucial to arrange routine doctor's appointments to track the child's physical development and developmental milestones, especially during the first year.
