Treatment for Jackson–Weiss syndrome can be done through surgery for some facial features and feet. Secondary complications such as hydrocephalus or cognitive impairment, can be averted via prompt surgery.

High quality evidence is lacking for cranial remolding orthosis (baby helmet) for the positional condition and use for this purpose is controversial. If conservative treatment is unsuccessful helmets may help to correct abnormal head shapes. These helmets are used to treat deformational plagiocephaly, brachycephaly, scaphocephaly and other head shape deformities in infants 3–18 months of age by gently allowing the head shape to grow back into a normal shape. This type of treatment has been used for severe deformations.

The treatment of Muenke syndrome is focused on the correction of the abnormal skull shape and mirrors the treatment of coronal craniosynostosis. The abnormal growth patterns continue throughout the growing years; therefore, intervention, accurate diagnosis, and a customized, expertly carried-out treatment plan should be a primary concern. The treatment of Muenke syndrome is focused on correction of the abnormal skull shape and mirrors the treatment of non-syndromic coronal craniosynostosis. Although the timing of surgery can be highly individualized, surgical correction of the bicoronal craniosynostosis is most often done between 6 and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair of the head. Your craniofacial surgeon will work in concert with a pediatric neurosurgeon in order to safely remove the bones of the skull. Then, the craniofacial surgeon reshapes and repositions those bones to give a more normal skull shape.

There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression. Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance.

Surgical corrections for the main symptoms;

- Craniosynostosis correction: The preferred age for this procedure is between 6–9 months of age. Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents prolonged elevated intracranial pressure (ICP). However, the data for the exact risk of an elevated intracranial pressure for patients with CFND is lacking in the published literature. The surgery involves a frontal bone advancement in combination with remodellation of the supraorbital rim.

- Orbital hypertelorism: It is preferred to wait with this treatment until the age of 5–8 years old, after permanent dentition. The procedures that can be performed are the facial bipartition and the box osteotomy. Facial bipartition is the more preferable choice as there are less additional corrections needed, as well as providing a more stable long-term result after treatment. After the correction of the orbitas, the medial corners of the eyes are put more into a horizontal line.

- Nasal deformity correction: The correction of the broad nasal base is simultaneously done with the orbital hypertelorism repair. This is for good alignment of the eyes with the nose for the best aesthetic result. A bifid nose tip will only be treated at the age of 18, when the patient's skeleton has fully matured.

The major treatment is surgery for most babies. The type of surgery which they would undergo differs from age and strength they have. The main reason of doing the surgery is to alleviate pressure on the brain, and create a space for brain developing and growing. It would improve infant’s appearance.

The first one is Traditional surgery. During surgery, they make an incision in the baby's scalp and cranial bones, and reshape the portion of the skull. Sometimes plates and screws, often made of material that is absorbed over time, are used to hold the bones in place. Surgery, which is performed during general anesthesia, usually takes hours.

After surgery, your baby remains in the hospital for at least three days. Some children may require a second surgery later because, the craniosynostosis recurs. Also, children with facial deformities often require future surgeries to reshape their faces.

Another one is Endoscopic surgery. This less invasive form of surgery isn't an option for everyone. But in certain cases, the surgeon may use a lighted tube (endoscope) inserted through one or two small scalp incisions over the affected suture. The surgeon then opens the suture to enable your baby's brain to grow normally. Endoscopic surgery usually takes about an hour, causes less swelling and blood loss, and shortens the hospital stay, often to one day after surgery.

Each child is different and it entirely depends on which sutures are fused and how it is affecting the child as to how it is treated. Some children have severe breathing issues due to shallow mid face and may require a tracheostomy. All should be treated at a specialist centre. Cranio bands are not used in the UK.

Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of both plastic surgery and oral and maxillofacial surgery (OMFS) . To move the orbits forward, craniofacial surgeons expose the skull and orbits and reshape the bone. To treat the midface deficiency, craniofacial surgeons can move the lower orbit and midface bones forward. For jaw surgery, either plastic surgeons or OMFS surgeons can perform these operations.

Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, and either open vault surgery or strip craniectomy (if child is under 6 months) can be performed. In the later scenario, a helmet is worn for several months following surgery.

Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan.

Treatment is surgical with attention to form and volume. Surgery usually takes place before the age of one since it has been reported that the intellectual outcome is better.

The condition may improve to some extent as the baby grows, but in some cases, treatment can improve the shape of a baby’s head.

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.

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.

Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.

However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.

Operations to correct the malformations of the skull should be performed within the first year of infancy in patients affected by Carpenter Syndrome. Performing surgery at a young age increases the likelihood of obtaining a greatly improved appearance of the head because modifying bone is much easier to do when the skull is still constantly growing and changing.

In surgery the doctor breaks the fused sutures to allow for brain growth. Doctors remove the cranial plates of the skull, reshape them and replace them back onto the skull in an attempt to reshape the head to appear more normal. Although the sutures are broken during surgery they will quickly refuse, and in some cases holes form in the plates allowing cerebral spinal fluid to escape into cyst like structures on the external surface of the head.

If an individual with Carpenter Syndrome has a serious heart defect they will require surgery to correct the malformation of the heart. Other elective surgeries may also be performed. Some parents opt to have their child’s webbed fingers or toes separated which improves their appearance but not necessarily the functionality of the digits. In order to address the occupational challenges of the disease, many children with Carpenter Syndrome go through speech and occupational therapy in order to achieve more independence in everyday tasks and activities (RN, 2007).

In order to address the vision problems that are associated with bicoronal craniosynostosis, the individual must seek consultation from an ophthalmologist. If the palate is severely affected dental consultation may be necessary to correct the malformation. Obesity is often associated with Carpenter Syndrome, so a lifelong diet plan is often utilized to maintain a healthy weight. In addition surgery must be performed if the testes fail to descend (Paul A. Johnson, 2002). If the procedure is not performed the individual will become infertile.

The physical abnormalities resulting from SCS are typically mild and only require a minor surgical procedure or no procedure at all. One of the common symptoms of SCS is the development of short (brachydactyly), webbed fingers and broad toes (syndactyly). These characteristics do not cause any problems to the function of the hands or feet, and thus, no medical procedure is required to fix the abnormalities, unless the patient requests it. Webbing of the fingers may affect the base of the fingers, resulting in delayed hand growth during childhood, but this contributes no functional impairments. Sometimes, individuals with SCS develop broad toes because the bones at the ends of the toes are duplicating themselves. This is especially seen in the big toe, but requires no surgical intervention because it doesn't negatively affect the overall function of the foot. Individuals with these toe abnormalities walk normally and can wear normal footwear.

In more severe cases, frequent surgeries and clinical monitoring are required throughout development. A child born with asymmetrical unilateral coronal synostosis should undergo cranioplasty within its first year of life in order to prevent increased intracranial pressure and to prevent progressive facial asymmetry. Cranioplasty is a surgical procedure to correct prematurely fused cranial bones. The surgery acts to reconstruct and reposition the bones and sutures in order to promote the most normal growth. Cranioplasty is necessary in order to continue to grow and is important for two main reasons. First of all, the skull needs to be able to accommodate the growing brain following childbirth, which it can't because the skull doesn't grow as fast as the brain as long as the sutures remain fused. This results in an increase in pressure surrounding the brain and inhibits the brain from growing, causing the individual to experience significant problems, and if left untreated can eventually lead to death. Secondly, cranioplasty may be required for appearance purposes. This is especially the case in individuals with asymmetrical unilateral coronal synostosis, which requires reconstructive surgery of the face and skull. If cranioplasty is not performed, especially in individuals with unilateral coronal synostosis, then facial asymmetry will get worse and worse over time, which is why cranioplasty should be performed as soon as possible.

Surgery may also be required in individuals with vision problems. Vision problems usually arise due to a lack of space in the eye orbit and skull because of the abnormal bone structure of the face. Decreased space may also lead to abnormal or missing tear ducts and nerve damage. Reconstructive surgery is usually required in order to increase cranial space, correct tear duct stenosis, and/or correct ptosis of the eyelids in order to prevent amblyopia (lazy eye).

Midfacial surgery may also be required during early childhood to correct respiratory problems, dental malocclusion, and swallowing difficulties. A cleft palate is also corrected with surgery, and may involve the use of tympanostomy tubes. If needed, an individual will undergo orthognathic treatment and/or orthodontic treatment after facial development is complete. Since hearing loss is frequently associated with SCS, it is recommended that audiology screening persist throughout childhood.

After cranial reconstructive surgery, a child may be required to wear a molding helmet or some other form of head protection until the cranial bones set into place. This typically takes about three months and depends on the child's age and the severity of the condition. Following recovery, individuals with SCS look and act completely normal, so no one would even be able to tell that they have SCS.

To correct the rather prominent hypertelorism, wide nasal root and midline cleft in FND, a facial bipartition can be performed. This surgery is preferred to periorbital box-osteotomy because deformities are corrected with a better aesthetic result.

During the operation, the orbits are disconnected from the skull and the base of the skull. However, they remain attached to the upper jaw. Part of the forehead in the centre of the face is removed (median faciotomy) in the process. Then, the orbits are rotated internally, to correct the hypertelorism. Often, a new nasal bone will have to be interpositioned, using a bone transplant.

Complications of this procedure are: bleeding, meningitis, cerebrospinal fluid leakage and blindness.

A form of surgery is the so-called fronto-supraorbital advancement and remodelling. Firstly, the supraorbital bar is remodelled by a wired greenstick fracture to straighten it. Secondly, the supraorbital bar is moved 2 cm. forward and fixed only to the frontal process of the zygoma without fixation to the cranium. Lastly, the frontal bone is divided into two, rotated and attached to the supraorbital bar causing a nude area (craniectomy) between the parietal bone and frontal bone. Bone will eventually regenerate since the dura mater lies underneath (the dura mater has osteogenic capabilities). This results in an advancement and straightening of the forehead.

While there is no cure for BGS, symptoms can be treated as they arise. Surgery shortly after birth can repair craniosynostosis, as well as defects in the hand to create a functional grasp. There are risks associated with untreated craniosynostosis, therefore surgery is often needed to separate and reshape the bones. Since patients with a RECQL4 mutation may be at an increased risk of developing cancer, surveillance is recommended.

There is no standard treatment for the hand malformations in Apert due to the differences and severity in clinical manifestations in different patients. Every patient should therefore be individually approached and treated, aiming at an adequate balance between hand functionality and aesthetics.

However, some guidelines can be given depending on the severity of the deformities.

In general it is initially recommended to release the first and fourth interdigital spaces, thus releasing the border rays.

This makes it possible for the child to grasp things by hand, a very important function for the child's development. Later the second and third interdigital spaces have to be released.

Because there are three handtypes in Apert, all with their own deformities, they all need a different approach regarding their treatment:

- Type I hand usually needs only the interdigital web space release. First web release is rarely needed but often its deepening is necessary. Thumb clynodactyly correction will be needed.

- In type II hands it is recommended to release the first and fifth rays in the beginning, then the second and the third interdigital web spaces have to be freed. The clynodactyly of the thumb has to be corrected as well. The lengthening of the thumb phalanx may be needed, thus increasing the first web space. In both type I and type II, the recurrent syndactyly of the second web space will occur because of a pseudoepiphysis at the base of the index metacarpal. This should be corrected by later revisions.

- Type III hands are the most challenging to treat because of their complexity. First of all, it is advised to release the first and fourth webspace, thus converting it to type I hand. The treatment of macerations and nail-bed infections should also be done in the beginning. For increasing of the first web space, lengthening of the thumb can be done. It is suggested that in severe cases an amputation of the index finger should be considered. However, before making this decision, it is important to weigh the potential improvement to be achieved against the possible psychological problems of the child later due to the aesthetics of the hand. Later, the second and/or third interdigital web space should be released.

With growing of a child and respectively the hands, secondary revisions are needed to treat the contractures and to improve the aesthetics.

Temporary alleviation can be achieved by inserting an oral airway into the mouth. However, the only definitive treatment is surgery to correct the defect by perforating the atresia to create a nasopharyngeal airway. If the blockage is caused by bone, this is drilled through and stent inserted. The patient has to have this sucked out by an air vacuum machine . And in later life as a teenager or in early twenties the hole will have to be re-drilled larger.

A stent may be inserted to keep the newly formed airway patent or repeated dilatation may be performed.

The primary goal in surgical intervention is to allow normal cranial vault development to occur. This can be achieved by excision of the prematurely fused suture and correction of the associated skull deformities. If the synostosis goes uncorrected, the deformity will progressively worsen not only threatening the aesthetic aspect, but also the functional aspect. This is especially the case in the asymmetric conditions, such as unilateral coronal synostosis, with compromised function of the eyes and the jaw.

In addition signs of compromised neurodevelopment have been seen amongst all the synostoses, although this may also be caused by primary maldevelopment of the brain and can thus not be prevented by surgical intervention.

There are a few basic elements involved in the surgical intervention aimed at normalization of the cranial vault.

- One is minimization of blood loss, which is attempted by injection of vasoconstrictive agents (i.e. epinephrine) seven to ten minutes before scalp incision. In addition is the initiation of surgery delayed until blood products are physically present in the operating room.

- Another general agreement is the avoidance of the use of titanium plates in the fixation of the skull. The complication following this procedure is gradual movement of the titanium plates towards the brain, induced by resorption of the innermost bone layer of the skull and deposition of new bone on the outermost layer, thereby integrating the titanium plates. In some cases, the plates were even seen coming in direct contact with the brain. Absorbable plates are now used instead.

Although there is no cure for 13q deletion syndrome, symptoms can be managed, usually with the involvement of a neurologist, rehabilitation physician, occupational therapist, physiotherapist, psychotherapist, nutritionist, special education professional, and/or speech therapist. If the affected child's growth is particularly slow, growth hormone treatment can be used to augment growth. Plastic surgeries can repair cleft palates, and surgical repair or monitoring by a pediatric cardiologist can manage cardiac defects. Some skeletal, neurological, genitourinary, gastrointestinal, and ophthalmic abnormalities can be definitively treated with surgery. Endocrine abnormalities can often be managed medically. Special educators, speech and occupational therapists, and physiotherapists can help a child develop skills in and out of school.

This condition can be corrected by surgery if the child is young enough. The use of a cranial remolding orthosis can also benefit the child if the child begins wearing it at an early age.

The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities.

The prevention of the complications mentioned above plays an important role in the discussion about the timing of the surgery. The general consensus is now to perform surgery in late infancy, i.e. between six and twelve months. In this time frame the efficacy of surgery is enhanced due to several reasons:

- The bone is still more malleable and can be remodelled relatively 'simply' by greenstick fractures of the bone. At approximately one year of age the bone has become more mineralized and brittle and needs to be fastened to the surrounding bone with sutures or an absorbable plate.

- Reshaping of the cranial vault most commonly means excision of the bones and adjustment of the shape. Replacement of the bones can leave 'gaps' which are readily re-ossified before the age of one year, but need bony filling thereafter.

The reason why most surgeons will not intervene until after the age of six months is the greater risk that blood loss poses before this age. If possible it is preferred to wait until after three months of age when the anaesthetic risks are decreased.

Surgery is not performed in early childhood in every country. In some countries surgical intervention can take place in the late teens.

It is important that families seek out a Pediatric Craniofacial Physician who has experience with craniosynostosis for proper diagnosis, surgical care, and followup.

Although surgery is the treatment of choice, it must be preceded by imaging studies to exclude an intracranial connection. Potential complications include meningitis and a cerebrospinal fluid leak. Recurrences or more correctly persistence may be seen in up to 30% of patients if not completely excised.

Treatment is based

on the stage of the disease. Stage 1 does not

require treatment and

should be observed. 4

Neovascularization

(stage 2) responds well

to laser ablation or

cryotherapy.2,4 Eyes

with retinal detachments (stages

3 through 5) require surgery, with

earlier stages requiring scleral

buckles and later stages ultimately

needing vitrectomy. 2,4

More recently, the efficacy of

anti-VEGF intravitreal injections

has been studied. In one study,

these injections, as an in adjunct

with laser, helped early stages

achieve stabilization, but further

investigation is needed.6