No consensus criteria exist for the diagnosis of ENS; it is typically diagnosed by ruling out other conditions, with ENS remaining the likely diagnosis if the signs and symptoms are present. A "cotton test" has been proposed, in which moist cotton is held where a turbinate should be, to see if it provides relief; while this has not been validated nor is it widely accepted, it may be useful to identify which people may benefit from surgery.

As of 2015, protocols for using rhinomanometry to diagnose ENS and measure response to surgery were under development, as was a standardized clinical instrument (a well defined and validated questionnaire) to obtain more useful reporting of symptoms.

Initial treatment is similar to atrophic rhinitis, namely keeping the nasal mucosa moist with saline or oil-based lubricants and treating pain and infection as they arise; adding menthol to lubricants may be helpful in ENS, as may be use of a cool mist humidifer at home. For people with anxiety, depression, or who are obsessed with the feeling that they can't breathe, psychiatric or psychological care may be helpful.

In some people, surgery to restore missing or reduced turbinates may be beneficial.

A 2015 meta-analysis identified 128 people treated with surgery from eight studies that were useful to pool, with an age range of 18 to 64, most of whom had been suffering ENS symptoms for many years. The most common surgical approach was creating a pocket under the mucosa and implanting material - the amount and location were based on the judgement of the surgeon. In about half the cases a filler such as noncellular dermis, a medical-grade porous high-density polyethylene, or silastic was used and in about 40% cartilage taken from the person or from a cow was used. In a few cases hyaluronic acid was injected and in a few others tricalcium phosphate was used. There were no complications caused by the surgery, although one person was over-corrected and developed chronic rhinosinusitis and two people were under-corrected. The hyaluronic acid was completely resorbed in the three people who received it at the one year follow up, and in six people some of the implant came out, but this did not affect the result as enough remained. About 21% of the people had no or marginal improvement but the rest reported significant relief of their symptoms. Since none of the studies used placebo or blinding there may be a strong placebo effect or bias in reporting.

Diagnosis can be made solely on the basis of history and physical examination in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnostic lumbar puncture and serum test for autoantibodies may also be indicated in people who present with a seizure disorder of recent onset.

First-generation antihistamine has been suggested as first-line therapy to treat post-nasal drip.

Extreme deviation of nasal septum may be accompanied by atrophic rhinitis on the wider side.

Affected individuals may benefit from autologous fat transfer or fat grafts to restore a more normal contour to the face. However, greater volume defects may require microsurgical reconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle (Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) or latissimus dorsi muscle to the face. Severe deformities may require additional procedures, such as pedicled temporal fascia flaps, cartilage grafts, bone grafts, orthognathic surgery, and bone distraction. The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course while others recommend early intervention.

Treatment of atrophic rhinitis can be either medical or surgical.

Medical measures include:

- Nasal irrigation using normal saline

- Nasal irrigation and removal of crusts using alkaline nasal solutions prepared by dissolving a spoonful of powder containing one part sodium bicarbonate, one part sodium biborate and two part sodium chloride.

- 25% glucose in glycerine can be applied to the nasal mucosa to inhibit the growth of proteolytic organisms which produce foul smell.

- Local antibiotics, such as chloromycetine.

- Vitamin D (Kemicetine).

- Estradiol spray for regeneration of seromucinous glands and vascularization of mucosa.

- Systemic streptomycin (1g/day) against Klebsiella organisms.

- Oral potassium iodide for liquefaction of secretion.

- Placental extract injected in the submucosa.

Surgical interventions include:

- Young's operation.

- Modified Young's operation.

- Narrowing of nasal cavities, submucosal injection of Teflon paste, section and medial displacement of the lateral wall of the nose.

- Transposition of parotid duct to maxillary sinus or nasal mucosa.

Anosmia can be diagnosed by doctors by using acetylcysteine tests. Doctors will begin with a detailed elicitation of history. Then the doctor will ask for any related injuries in relation to anosmia which could include upper respiratory infections or head injury. Psychophysical Assessment of order and taste identification can be used to identify anosmia. A nervous system examination is performed to see if the cranial nerves are damaged. The diagnosis as well as the degree of impairment can now be tested much more efficiently and effectively than ever before thanks to "smell testing kits" that have been made available as well as screening tests which use materials that most clinics would readily have. Occasionally, after accidents, there is a change in a patient's sense of smell. Particular smells that were present before are no longer present. On occasion, after head traumas, there are patients who have unilateral anosmia. The sense of smell should be tested individually in each nostril.

Many cases of congenital anosmia remain unreported and undiagnosed. Since the disorder is present from birth the individual may have little or no understanding of the sense of smell, hence is unaware of the deficit. It may also lead to reduction of appetite.

There is no known cure for this syndrome. Patients usually need ophthalmic surgery and may also need dental surgery

Genetic counseling and screening of the mother's relatives is recommended.

PND is suggested to be a cause of extra-oral halitosis, especially when a sinus infection is also present. Acid reflux or heartburn is believed to aggravate and in some cases cause post-nasal drip. Post-nasal drip can be a cause of laryngeal inflammation and hyperresponsiveness, leading to symptoms of vocal cord dysfunction (VCD).

Nasodigitoacoustic syndrome is similar to several syndromes that share its features. Brachydactyly of the distal phalanges, sensorineural deafness and pulmonary stenosis are common with Keutel syndrome. In Muenke syndrome, developmental delay, distal brachydactyly and sensorineural hearing loss are reported; features of Teunissen-Cremers syndrome include nasal aberrations and broadness of the thumbs and big toes, also with brachydactyly. Broad thumbs and big toes are primary characteristics of Rubinstein syndrome.

The constellation of anomalies seen with Nasodigitoacoustic syndrome result in a distinct diagnosis. The diagnostic criteria for the disorder are broad distal phalanges of the thumbs and big toes, accompanied by a broad and shortened nose, sensorineural hearing loss and developmental delay, with predominant occurrence in males.

Paraneoplastic acrokeratosis, Bazex syndrome (also known as acrokeratosis paraneoplastica of Bazex and acrokeratosis neoplastica) is a cutaneous condition characterized by psoriasiform changes of hands, feet, ears, and nose, with involvement of the nails and periungual tissues being characteristic and indistinguishable from psoriatic nails. The condition is associated with carcinomas of the upper aerodigestive tract.

This condition should not be confused with the other unrelated disease called Bazex syndrome, otherwise referred to as Bazex-Dupre-Christol syndrome.

Though anosmia caused by brain damage cannot be treated, anosmia caused by inflammatory changes in the mucosa may be treated with glucocorticoids. Reduction of inflammation through the use of oral glucocorticoids such as prednisone, followed by long term topical glucocorticoid nasal spray, would easily and safely treat the anosmia. A prednisone regimen is adjusted based on the degree of the thickness of mucosa, the discharge of oedema and the presence or absence of nasal polyps. However, the treatment is not permanent and may have to be repeated after a short while. Together with medication, pressure of the upper area of the nose must be mitigated through aeration and drainage.

Anosmia caused by a nasal polyp may be treated by steroidal treatment or removal of the polyp.

There have also been cases where the use of acupuncture have successfully treated anosmia.

Although very early in development, gene therapy has restored a sense of smell in mice with congenital anosmia when caused by ciliopathy. In this case a genetic condition had affected cilia in their bodies which normally enabled them to detect air-borne chemicals, and an adenovirus was used to implant a working version of the IFT88 gene into defective cells in the nose, which restored the cilia and allowed a sense of smell.

Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include anesthesiologists, oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, optometrists, audiologists, speech pathologists, physical therapists and rheumatologists.

The main diagnostic tools for evaluating FND are X-rays and CT-scans of the skull. These tools could display any possible intracranial pathology in FND. For example, CT can be used to reveal widening of nasal bones. Diagnostics are mainly used before reconstructive surgery, for proper planning and preparation.

Prenatally, various features of FND (such as hypertelorism) can be recognized using ultrasound techniques. However, only three cases of FND have been diagnosed based on a prenatal ultrasound.

Other conditions may also show symptoms of FND. For example, there are other syndromes that also represent with hypertelorism. Furthermore, disorders like an intracranial cyst can affect the frontonasal region, which can lead to symptoms similar to FND. Therefore, other options should always be considered in the differential diagnosis.

Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.

Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids.

These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).

Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition, as there are overlapping features with fetal alcohol syndrome.

Other examinations or tests can help with diagnosis. These can include:

detailed family history

- conducting a detailed physical examination to document morphological features

- testing for genetic defect in FGDY1

- x-rays can identify skeletal abnormalities

- echo cardiogram can screen for heart abnormalities

- CT scan of the brain for cystic development

- X-ray of the teeth

- Ultrasound of abdomen to identify undescended testis

The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of 2015. Symptomatic treatment is surgical.

Nablus mask-like facial syndrome is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.

It is characterized by a narrowing of the eyes, tight, glistening facial skin, and a flat, broad nose. Other features of the syndrome include malformed ears, unusual hair patterns on the scalp, bent fingers and toes and joint deformities in the hands and feet, unusual teeth, mild developmental delay, cryptorchidism, and a generally happy disposition. It is a rare genetic disorder by inheritance found in Palestinian people named after Nablus city in the West Bank. It is part of many new genetic disorders of newborns that is increasing exponentially in Arabs in recent years as reported by Centre for Arab Genomic Studies in Dubai.

The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.

Koenig and Spranger (1986) noted that eye lesions are apparently nonobligatory components of the syndrome. The diagnosis of Fraser syndrome should be entertained in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos. Thomas et al. (1986) also emphasized the occurrence of the cryptophthalmos syndrome without cryptophthalmos and proposed diagnostic criteria for Fraser syndrome. Major criteria consisted of cryptophthalmos, syndactyly, abnormal genitalia, and positive family history. Minor criteria were congenital malformation of the nose, ears, or larynx, cleft lip and/or palate, skeletal defects, umbilical hernia, renal agenesis, and mental retardation. Diagnosis was based on the presence of at least 2 major and 1 minor criteria, or 1 major and 4 minor criteria.

Boyd et al. (1988) suggested that prenatal diagnosis by ultrasound examination of eyes, digits, and kidneys should detect the severe form of the syndrome. Serville et al. (1989) demonstrated the feasibility of ultrasonographic diagnosis of the Fraser syndrome at 18 weeks' gestation. They suggested that the diagnosis could be made if 2 of the following signs are present: obstructive uropathy, microphthalmia, syndactyly, and oligohydramnios. Schauer et al. (1990) made the diagnosis at 18.5 weeks' gestation on the basis of sonography. Both the female fetus and the phenotypically normal father had a chromosome anomaly: inv(9)(p11q21). An earlier born infant had Fraser syndrome and the same chromosome 9 inversion.

Van Haelst et al. (2007) provided a revision of the diagnostic criteria for Fraser syndrome according to Thomas et al. (1986) through the addition of airway tract and urinary tract anomalies to the major criteria and removal of mental retardation and clefting as criteria. Major criteria included syndactyly, cryptophthalmos spectrum, urinary tract abnormalities, ambiguous genitalia, laryngeal and tracheal anomalies, and positive family history. Minor criteria included anorectal defects, dysplastic ears, skull ossification defects, umbilical abnormalities, and nasal anomalies. Cleft lip and/or palate, cardiac malformations, musculoskeletal anomalies, and mental retardation were considered uncommon. Van Haelst et al. (2007) suggested that the diagnosis of Fraser syndrome can be made if either 3 major criteria, or 2 major and 2 minor criteria, or 1 major and 3 minor criteria are present in a patient.

Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in an average of 5 Mb (millions of base pairs). Nowadays is a common practice to run an aCHG (array chromosome hybridization genome) study on peripheral blood of the patient, in order to limit the extent of the loss of the genomic area, and the deleted genes.

Prevalence ranges from 1 in 3500 to 5600 live births. Male-female ratio is found to be 3:2.

The recurrence of DOOR in siblings and the finding of DOOR syndrome in a few families with consanguinity suggest that the condition is an autosomal recessive genetic condition. Mutations in TBC1D24 have been identified in 9 families.

The treatment of soft tissue parts of midface anomalies is often a reconstruction from a skin flap of the cheek. This skinflap can be used for other operations in the further, as it can be raised again and transposed again. In the treatment of midface anomalies there are generally more operations needed. Bone tissue reconstruction of the midface often occurs later than the soft tissue reconstruction. The most common method to reconstruct the midface is by using the fracture/ incision lines described by René Le Fort. When the cleft involves the maxilla, it is likely that the impaired growth will result in a smaller maxillary bone in all 3 dimensions (height, projection, width).