Colobomas of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases. More recently artificial iris prosthetic devices such as the Human Optics artificial iris have been used successfully by specialist surgeons. This device cannot be used if the natural lens is in place and is not suitable for children. Suture repair is a better option where the lens is still present.

Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia.

There is no cure for ONH; however, many therapeutic interventions exist for the care of its symptoms. These may include hormone replacement therapy for hypopituitarism, occupational, physical, and/or speech therapy for other issues, and services of a teacher of students with blindness/visually impairment. Special attention should be paid to early development of oral motor skills and acclimation to textured foods for children with texture aversion, or who are otherwise resistant to eating.

Sleep dysfunction can be ameliorated using melatonin in the evening in order to adjust a child's circadian clock.

Treatment for strabismus may include patching of the better eye, which may result in improved vision in the worse eye; however, this should be reserved for cases in which the potential for vision improvement in both eyes is felt to be good. Surgery to align the eyes can be performed once children with strabismus develop equal visual acuity in both eyes, most often after the age of three. Generally surgery results in improved appearance only and not in improved visual function.

In general, strabismus can be approached and treated with a variety of procedures. Depending on the individual case, treatment options include:

- Correction of refractive errors by glasses

- Prism therapy (if tolerated, to manage diplopia)

- Patching (mainly to manage amblyopia in children and diplopia in adults)

- Botulinum toxin injection

- Surgical correction

Surgical correction of the hypertropia is desired to achieve binocularity, manage diplopia and/or correct the cosmetic defect. Steps to achieve the same depend on mechanism of the hypertropia and identification of the offending muscles causing the misalignment. Various surgical procedures have been described and should be offered after careful examination of eyes, including a detailed orthoptic examination focussing on the disturbances in ocular motility and visual status. Specialty fellowship trained pediatric ophthalmologists and strabismus surgeons are best equipped to deal with these complex procedures.

Usually the hemangioma requires medical therapy. The child may need other therapies, depending on what other organs or structures are involved.

Because newborns can breathe only through their nose, the main goal of postnatal treatment is to establish a proper airway. Primary surgical treatment of FND can already be performed at the age of 6 months, but most surgeons wait for the children to reach the age of 6 to 8 years. This decision is made because then the neurocranium and orbits have developed to 90% of their eventual form. Furthermore, the dental placement in the jaw has been finalized around this age.

Treatment for individuals with schizencephaly generally consists of physical therapy (KG-ZNS with Vojta Methode), occupational therapy (with specific emphasis on neuro-developmental therapy techniques), treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt.

Cherry eye, if caught early, can be resolved with a downward diagonal-toward-snout closed-eye massage of the affected eye or occasionally self-corrects alone or with antibiotics and steroids. Sometimes the prolapse will correct itself with no interference, or with slight physical manual massage manipulation as often as necessary coupled with medication.

Structural nasal deformities are corrected during or shortly after the facial bipartition surgery. In this procedure, bone grafts are used to reconstruct the nasal bridge. However, a second procedure is often needed after the development of the nose has been finalized (at the age of 14 years or even later).

Secondary rhinoplasty is based mainly on a nasal augmentation, since it has been proven better to add tissue to the nose than to remove tissue. This is caused by the minimal capacity of contraction of the nasal skin after surgery.

In rhinoplasty, the use of autografts (tissue from the same person as the surgery is performed on) is preferred. However, this is often made impossible by the relative damage done by previous surgery. In those cases, bone tissue from the skull or the ribs is used. However, this may give rise to serious complications such as fractures, resorption of the bone, or a flattened nasofacial angle.

To prevent these complications, an implant made out of alloplastic material could be considered. Implants take less surgery time, are limitlessly available and may have more favorable characteristics than autografts. However, possible risks are rejection, infection, migration of the implant, or unpredictable changes in the physical appearance in the long term.

At the age of skeletal maturity, orthognathic surgery may be needed because of the often hypoplastic maxilla. Skeletal maturity is usually reached around the age of 13 to 16. Orthognathic surgery engages in diagnosing and treating disorders of the face and teeth- and jaw position.

Children with CHARGE syndrome may have a number of life-threatening medical conditions; with advances in medical care, these children can survive and can thrive with the support of a multidisciplinary team of medical professionals. Therapies and education must take into consideration hearing impairment, vision problems, and any others. Early intervention, such as occupational, speech-language, and physical therapy, to improve static posture, ambulation, and self-care skills is important. The intelligence of children with multiple health impairments, such as combined deafblindness, can be underestimated in the absence of early intervention.

Untreated glaucoma leads to total blindness. Surgical treatment is required. Presently-utilized surgical procedures include goniotomy, trabeculotomy, or trabeculectomy.

To treat the trigonocephaly, expanding the distance between orbits using springs seems to work. It allows enough space for the brain to grow and it creates a normal horizontal axis of the orbits and supraorbital bar. The endoscopic surgery started to become popular since the early 90's, but it has some technical limitations (only strip cranictomy is possible). There have been few attempts to go beyond the limits.

Aesthetic outcomes of metopic surgery have been good. Surgery does not have a perfect outcome because there will most likely be minor irregularities. Sometimes reoperations are needed for the severe cases. Trying to hollow out the temporal, and the hypoterlorism are very hard to correct. The hypotelorism usually stays not corrected and in order to correct the temporal hollowing, a second operation is most likely needed.

Postoperative treatment includes antibiotic eye ointment three times daily for two weeks. With newer procedures, the rate of prolapse recurrence is minimal. Most techniques have a reprolapse rate of approximately zero to four percent. Occasionally, additional or duplicate surgery is required. With treatment, it is possible for animals to live a normal life.

The first aims of management should be to identify and treat the cause of the condition, where this is possible, and to relieve the patient's symptoms, where present. In children, who rarely appreciate diplopia, the aim will be to maintain binocular vision and, thus, promote proper visual development.

Thereafter, a period of observation of around 9 to 12 months is appropriate before any further intervention, as some palsies will recover without the need for surgery.

Where full recovery has not occurred after the 9 to 12 month 'watch and wait' period, management will take either a 'conservative' or a surgical course.

Currently, the only effective treatment for encephaloceles is reparative surgery, generally performed during infancy. The extent to which it can be corrected depends on the location and size of the encephaloceles; however, large protrusions can be removed without causing major disability. Surgery repositions the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development. Occasionally, shunts are placed to drain excess cerebrospinal fluid from the brain.

The goals of treatment include:

- closure of open skin defects to prevent infection and desiccation of brain tissue

- removal of nonfunctional extracranial cerebral tissue with water-tight closure of the dura

- total craniofacial reconstruction with particular emphasis on avoiding the long-nose deformity (nasal elongation that results from depression of the cribiform plate and nasal placode). Without proper management, the long-nose deformity can be more obvious after repair.

No specific treatment is available. Management is only supportive and preventive.

Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three.

The treatment will vary with the different grades, but the most common is a surgical repair. The surgical option is cosmetic reconstruction of the external ear's normal shape and repair of the ear canal. In less severe cases the reconstruction will be sufficient to restore hearing. In grades of anotia/microtia that affect the middle ear the surgery with the use of a Bone Anchored Hearing Aid (BAHA) will likely restore the hearing. The BAHA may be surgically implanted onto the skull which would allow for some hearing repair by conduction through the skull bone. "This allows sound vibrations to travel through bones in the head to the inner ear."

BAHA: An implantable hearing device. It is the only hearing aid device that works via direct bone conduction.

Since there is no cure for albinism, it is managed through lifestyle adjustments. People with albinism need to take care not to sunburn and should have regular healthy skin checks by a dermatologist.

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery is possible on the extra-ocular muscles to decrease strabismus. Nystagmus-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth. The effectiveness of all these procedures varies greatly and depends on individual circumstances.

Glasses, low vision aids, large-print materials, and bright angled reading lights can help individuals with albinism. Some people with albinism do well using bifocals (with a strong reading lens), prescription reading glasses, hand-held devices such as magnifiers or monoculars or wearable devices like eSight

and Brainport.

Albinism is often associated with the absence of an iris in the eye. Contact lenses may be colored to block light transmission through the aniridic eye. Some use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that they can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some US states allow the use of bioptic telescopes for driving motor vehicles. (See also NOAH bulletin "Low Vision Aids".)

To support those with albinism, and their families, the National Organization for Albinism and Hypopigmentation was set up to provide a network of resources and information.

There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.

Treatment plans will vary depending on the severity of the condition and its evidences in each patient.

Areas that will probably need to be evaluated and assessed include speech, vision, hearing and EEG. Treatment measures may include physical therapy, occupational therapy, Speech therapy, anti-seizure drugs and orthotic devices. Surgery may be needed to assuage spastic motor problems. Various supportive measures such as joint contractures that could prevent complications.

Genetic counseling may also be recommended

Treatment is only necessary if the degree of curvature is sufficient to cause disability or if it causes emotional distress. Splinting does not routinely correct the deformity. Surgical treatments are closing wedge osteotomy, opening wedge osteotomy, and reversed wedge osteotomy. Radiographs of the fingers are useful in planning the surgical procedure. Severe clinodactyly may require soft tissue alterations to the digit such as release of skin, extensor tendon relocation, and collateral ligament advancement.

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Additional comorbidities and complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for porencephalic cysts and/or hydrocephalus is often via a shunt or endoscopic of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.

The outcome of this disease is dependent on the severity of the cardiac defects. Approximately 1 in 3 children with this diagnosis require shunting for the hydrocephaly that is often a consequence. Some children require extra assistance or therapy for delayed psychomotor and speech development, including hypotonia.

While there is no cure for JBS, treatment and management of specific symptoms and features of the disorder are applied and can often be successful. Variability in the severity of JBS on a case-by-case basis determines the requirements and effectiveness of any treatment selected.

Pancreatic insufficiency and malabsorption can be managed with pancreatic enzyme replacement therapy, such as pancrelipase supplementation and other related methods.

Craniofacial and skeletal deformities may require surgical correction, using techniques including bone grafts and osteotomy procedures. Sensorineural hearing loss can be managed with the use of hearing aids and educational services designated for the hearing impaired.

Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families. This, too, is carefully considered for JBS patients.

PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pay close attention to how these children develop throughout the school age period.

PHACE Syndrome Handbook - Dr. Beth Drolet

In 2013, the PHACE Syndrome Community was formed. The non-profit entity was developed to raise awareness about the condition, support patients and families of those with the condition and raise money for research into causes and treatment.