About nager acrofacial dysostosis syndrome
What is nager acrofacial dysostosis syndrome?
Nager Syndrome is a rare disorder that may or may not be genetically derived. Major symptoms may include underdevelopment of the cheek and jaw area of the face. Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with related hearing problems and cleft palate may also occur. There may be underdevelopment or absence of the thumb, shortened forearms and poor movement in the elbow. Breathing and feeding problems may be present in infants with this syndrome.
What are the symptoms for nager acrofacial dysostosis syndrome?
The specific symptoms that occur may vary from one person to another, even among members of the same family. Affected individuals may develop a variety of Craniofacial and limb abnormalities which usually are noticeable at birth (congenital).
Common Craniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia); an abnormally Small lower jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate) and/or velopharyngeal insufficiency, in which the soft palate of the mouth does not close properly during speech; narrowing of the back of the nasal cavity (choanal atresia); malformation of the internal or external ears that can range from mild abnormality to absence of the external portion of the ear. Additional Craniofacial findings in or around the eyes include downward-slanting palpebral fissures (which means that opening between the upper and lower lids slants downward), absence of tissue (colobomas) from the lower eyelids, partial or total absence of the eyelashes of the lower eyelids, and droopy or sagging of the upper eyelids (ptosis). In some patients, scalp hair may extend onto the cheek.
Micrognathia is caused by underdevelopment (hypoplasia) of the lower jaw bone (mandible). Severe mandibular hypoplasia along with cleft palate and choanal atresia can result in Feeding difficulties and/or severe Breathing difficulties during infancy. In some cases, if left untreated, Breathing difficulties can cause life-threatening complications. Affected individuals may have temporomandibular joint dysfunction (TMJD); the temporomandibular joint connects the jaws to the side of the head. TMJD can cause Pain of the jaw, face and neck, stiff jaw muscles, and upper and lower teeth that do not meet properly when closing the mouth (malocclusion).
Malformation of the ears can contribute to affected individuals developing conductive hearing loss. Conductive Hearing loss occurs due to lack of conduction of sound from the outer or middle ear to the inner ear. Degree of Hearing loss can vary. Hearing impairment may cause speech development to be delayed.
Individuals with Nager syndrome also have abnormalities affecting the arms and hands including underdevelopment or absence of the thumbs, the presence of an extra (third) copy of a bone known as the phalange within the thumb (triphalangeal thumbs), and underdevelopment of the forearm bone on the thumb side of the arm (radius). Less often, webbing (syndactyly) of the fingers may occur, or certain fingers may be fixed or stuck in a bent position (camptodactyly). The formation of an abnormal bone or soft tissue connection between the ulna and the radius, two main bones of the forearm (radioulnar synostosis) may also occur. Because of these abnormalities, the forearms may appear abnormally short. Some individuals may have difficulty fully straightening their arms because the range of motion of the elbow is limited. A few very severely affected individuals have severely shortened upper limbs (phocomelia).
Although abnormalities of the hands and forearms are more common, some affected individuals have abnormalities affecting the feet and lower legs including underdeveloped or absent toes, webbing of the toes, clubfeet, and the abnormal turning inward of the big toe towards the index toe (hallux valgus).
While most individuals with Nager syndrome are healthy, a few severely affected individuals have serious internal malformations involving the kidney and/or the heart. Additional rare symptoms that have been reported in the medical literature include diaphragmatic hernia (an abnormal connection between the chest and abdomen), and underdevelopment of the larynx which can contribute to respiratory problems, as well as additional Skeletal abnormalities such as underdevelopment of the first rib, abnormal curvature of the spine (scoliosis), or dislocation of the hip.
What are the causes for nager acrofacial dysostosis syndrome?
Most cases of Nager syndrome are cause by mutations in the SF3B4 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
Because individuals with Nager syndrome have a change in only 1 copy of the SF3B4 gene we know that Nager syndrome is inherited as an autosomal dominant condition. Most cases occur as a new (sporadic or de novo) mutation at the time of the formation of the egg or sperm for that child only, and no other family members are affected. An individual who is the first one in the family to have Nager syndrome does, however, still have a 50% risk to transmit it to his or her children. Previous reports of siblings with Nager syndrome born to apparently unaffected parents could represent a different recessive form of Nager syndrome, but are more likely due to failure to recognize the condition in a mildly affected parent or to a parent having a gene change only in the ovary or testis (gonadal mosaicism).
What are the treatments for nager acrofacial dysostosis syndrome?
The treatment of Nager syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, oral surgeons, plastic surgeons, pediatric ear, nose and throat specialists (pediatric otolaryngologists), specialists in diagnosing and treating eye disorders (ophthalmologists), specialists in diagnosing and treating ear disorders (otologists), specialists in treating hearing loss (audiologists), psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment. Affected individuals may benefit from referral to a craniofacial center.
Specific treatment may consist of surgery to create a small opening in the throat, through which a small tube is inserted to assist with breathing (tracheostomy). Surgery may also be necessary to create a small opening in the stomach to allow the insertion of a feeding tube in infants experiencing difficulty eating in order to maintain proper nutrition.
Surgery may be required to correct abnormalities of the jaws, limbs, and eyes. Surgery and/or speech therapy may be necessary when cleft palate or cleft lip is present. Skeletal malformations such as rib abnormalities, limited range of motion of the elbows, and scoliosis may require surgical intervention. Congenital heart defects often require surgery.
Early intervention with appropriate physical, occupational, and speech therapy services is important in ensuring that affected children reach their full potential. Physical and occupational therapy may be necessary to aid in walking and using one’s hands. Speech therapy may be of benefit for individuals with speech development delays due to hearing loss. Hearing loss may require tubes to be implanted in the ears or the use of a hearing aid.
Genetic counseling is recommended for affected individuals and their families. Psychosocial support for the entire family is essential as well.
What are the risk factors for nager acrofacial dysostosis syndrome?
Nager syndrome affects males and females in equal numbers. The exact incidence and prevalence in the general population is unknown. Many cases go misdiagnosed or undiagnosed, making it difficult to determine the true frequency in the general population. More than 100 cases have been reported in the medical literature. Although rare, Nager syndrome is the most common form of acrofacial dysostosis.
Is there a cure/medications for nager acrofacial dysostosis syndrome?
Nager Acrofacial Dysostosis Syndrome is a rare genetically inherited disorder where the newborn shows signs of craniofacial malformations. It's mostly associated with irregularities of the thumb and forearms. In particular circumstances, underdevelopment of bones in the face and hands is visible, while poor development of the cheek and jaw area is seen. Weak movement in the elbow is
Cures/medications for Nager Acrofacial Dysostosis Syndrome
While there is no cure for this life-long condition, any danger of side-effects can be avoided through surgery after birth. These treatment options include:
1. Tracheostomy: The healthcare provider will make an opening in the child's throat, placing a tube that will help your kid breathe better.
2. Gastrostomy: A similar opening is created but in the child's stomach, placing a tube there to ensure that your child gets the necessary nutrients.
3. Tympanostomy: Tubes will be inserted in the ears to avoid ear infection and enhance hearing. As per the extremity of the diagnosis, hearing aids might be suggested.
4. Craniofacial surgery: The health care provider will tackle any physical abnormalities. These may involve fixing a cleft palate or sloped eyes, and after underdeveloped jaws.
Following therapeutic alternatives helps process this:
1. Physical therapy: Improves mobility, specifically seen in walking and hand movements.
2. Speech therapy: Obstacles in hearing can affect speech. Speech therapy takes care of issues with vocal development.
3. Psychological therapy: Guidance and support are the two key aspects. It is extended for anyone's mental health.
4. Genetic counseling: They pre-determine the risk of a baby with a genetic disorder and provide support throughout and before the pregnancy. Genetic counselors guide on care and wellness of the baby.
Cleft palate,Curved or webbed fingers,Downward slanting eyes (down-slanting palpebral fissures),Small lower jaw (micrognathia),Missing or malformed thumbs,Short forearms (missing radius bone) and short range of motion at the elbow,Small ears,Underdeveloped cheekbones (malar hypoplasia)
Underdeveloped bones in their face, hands and arms