Treatment can include amoxicillin-clavulanic acid, intravenous fluid administration and paracetamol oral for pain relief. Other treatment varies based on the condition and extent of uropathy.

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.

Often, an interdisciplinary approach is recommended to treat the issues associated with CdLS. A team for promoting the child's well-being often includes speech, occupational and physical therapists, teachers, physicians and parents.

Medical treatment entails low dose antibiotic prophylaxis until resolution of VUR occurs. Antibiotics are administered nightly at half the normal therapeutic dose. The specific antibiotics used differ with the age of the patient and include:

- Amoxicillin or ampicillin – infants younger than 6 weeks

- Trimethoprim-sulfamethoxazole (co-trimoxazole) – 6 weeks to 2 months

After 2 months the following antibiotics are suitable:

- Nitrofurantoin {5–7 mg/kg/24hrs}

- Nalidixic acid

- Bactrim

- Trimethoprim

- Cephalosporins

Urine cultures are performed 3 monthly to exclude breakthrough infection. Annual radiological investigations are likewise indicated. Good perineal hygiene, and timed and double voiding are also important aspects of medical treatment. Bladder dysfunction is treated with the administration of anticholinergics.

Endoscopic injection involves applying a gel around the ureteral opening to create a valve function and stop urine from flowing back up the ureter. The gel consists of two types of sugar-based molecules called dextranomer and hyaluronic acid. Trade names for this combination include Deflux and Zuidex. Both constituents are well-known from previous uses in medicine. They are also biocompatible, which means that they do not cause significant reactions within the body. In fact, hyaluronic acid is produced and found naturally within the body.

The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a "vesicostomy", which allows the bladder to drain through a small hole in the abdomen, thus helping to prevent urinary tract infections. Similarly, consistent self catheterization, often several times per day, can be an effective approach to preventing infections. A more drastic procedure is a surgical "remodeling" of the abdominal wall and urinary tract. Boys often need to undergo an orchiopexy, to move the testes to their proper place in the scrotum.

MCDK is not treatable. However, the patient is observed periodically for the first few years during which ultrasounds are generally taken to ensure the healthy kidney is functioning properly and that the unhealthy kidney is not causing adverse effects. In severe cases MCDK can lead to neonatal fatality (in bilateral cases), however in unilateral cases the prognosis might be better (it would be dependent on associated anomalies).

Therapy for UAB is often dependent on factors such as age, health, symptoms, and cause of the condition. Treatment frequently includes lifestyle modification (fluid restriction, bladder retraining). Bethanechol is a prescription medication used for treatment, bethanechol can stimulate the nerves of the bladder, making them more responsive to stimulus. With UAB, it is common for patients to utilize a urinary catheter to void. Surgical options are also options, with a cuff or stent placed around or in the neck of the bladder to aid the emptying and leakage of urine. Neuromodulatory techniques such as sacral nerve or posterior tibial nerve stimulation may be of value in selected cases. However, current therapies are considered inadequate and there is a strong need for new research and attention.(Van Koeveringe et al., 2011; Tyagi et al. 2015).

If suspected antenatally, a consultation with a paediatric surgeon/ paediatric urologist maybe indicated to evaluate the risk and consider treatment options.

Treatment is by endoscopic valve ablation. Fetal surgery is a high risk procedure reserved for cases with severe oligohydramnios, to try to limit the associated lung underdevelopment, or pulmonary hypoplasia, that is seen at birth in these patients. The risks of fetal surgery are significant and include limb entrapment, abdominal injury, and fetal or maternal death. Specific procedures for "in utero" intervention include infusions of amniotic fluid, serial bladder aspiration, and creating a connection between the amniotic sac and the fetal bladder, or vesicoamniotic shunt.

There are three specific endoscopic treatments of posterior urethral valves:

- Vesicostomy followed by valve ablation - a stoma, or hole, is made in the urinary bladder, also known as "low diversion", after which the valve is ablated and the stoma is closed.

- Pyelostomy followed by valve ablation - stoma is made in the pelvis of the kidney as a slightly "high diversion", after which the valve is ablated and the stoma is closed

- Primary (transurethral) valve ablation - the valve is removed through the urethra without creation of a stoma

The standard treatment is primary (transurethral) ablation of the valves. Urinary diversion is used in selected cases, and its benefit is disputed.

Following surgery, the follow-up in patients with posterior urethral valve syndrome is long term, and often requires a multidisciplinary effort between paediatric surgeons/ paediatric urologists, pulmonologists, neonatologists, radiologists and the family of the patient. Care must be taken to promote proper bladder compliance and renal function, as well as to monitor and treat the significant lung underdevelopment that can accompany the disorder. Definitive treatment may also be indicated for the vesico-ureteral reflux.

The first step in treating Reinke’s edema is to eliminate or control those risk factors that are causing the disease. This includes the cessation of smoking, the control of gastric reflux using antacids and/or Proton Pump Inhibitors (PPIs), and the discontinuation of activities that cause vocal distress. Those experiencing a hoarseness of the voice may choose to undergo voice therapy to improve the voice’s quality and range. Most cases of Reinke’s edema are caused by the long term usage of cigarettes. In this case, it is important to make lifestyle changes to stop smoking. While this will not resolve or improve the edema, the cessation of smoking will halt the disease's progression.

If the elimination of risk factors is not sufficient to improve the patient’s symptoms, surgery may be required. The most common type of surgery performed today for Reinke's edema is called surgical microlaryngoscopy. Most procedures follow the microflap technique set in place by Hirano. During surgery, an incision is made into the vocal cord using either microscissors or a CO laser. A flap of mucosa is lifted and the affected tissue is removed using suction or a microdebrider. The flap is then re-draped and trimmed to the appropriate size.

Most cases of Reinke’s Edema are bilateral - effecting both vocal cords - rather than unilateral. In the case of bilateral edema, the surgeon must choose whether to operate each side of the vocal cord in two separate surgeries or to operate both sides in a single surgery. The complication associated with removing tissue from both sides in a single surgery is that the raw, cut ends of the vocal cords may form an anterior glottis web, in which the two sides grow together in a continuous sheet. Other complications of surgery include tissue scarring due to damage to the vocal ligament during the incision and vocal cord stiffening due to over-suctioning of the superficial lamina propria (Reinke’s space).

While surgical microlarynscopy has its associated risks, if left untreated, Reinke’s edema can lead to a variety of long-term complications. Besides dysphonia (impaired speech), the most serious of these complications is airway obstruction due to severe inflammation of the vocal cords. The risk of complications has decreased drastically with the creation of new tools, such as the CO laser for surgical microlaryngoscopy. Before the Hirano microflap method was developed in 1895, vocal stripping was the most common procedure used to correct Reinke's Edema. Vocal stripping was often performed without magnification and with a monocular laryngoscope, instead of a binocular scope. This led to major complications such as vocal ligament scarring.

Women are more likely than men to undergo surgery due to a greater change in vocal pitch and quality. Surgery is capable of restoring the voice, with the condition that smoking is not resumed after surgery. Post-operative voice therapy is also advised to restore the voice's strength. Reinke's edema is not a fatal pathology unless the tissue becomes precancerous.

Specific treatment for contact granuloma depends on the underlying cause of the condition, but often initially includes a combination of speech therapy, vocal rest, and antireflux medication. A more aggressive treatment approach could include steroids (inhalant or injection), injections of botulinum toxin, low dose radiotherapy, vocal fold augmentation, or microlaryngeal surgery). Microlaryngeal surgery can be performed either via cold steel excision or various types of laser. The laser is more accurate and typically results in less damage to the surrounding tissue. These more aggressive approaches might be used in the case of the refractory (i.e. resistant to treatment) contact granuloma where previous interventions have not succeeded or recurrence rates are high. The best outcomes appear to occur when a combination of treatments is used.

The most important criterion for improving long-term prognosis is success of the initial closure. If a patient requires more than one closure their chance of continence drops off precipitously with each additional closure - at just two closures the chance of voiding continence is just 17%.

Even with successful surgery, people may have long-term complications. Some of the most common include:

- Vesicoureteral reflux

- Bladder spasm

- Bladder calculus

- Urinary tract infections

Modern therapy is aimed at surgical reconstruction of the bladder and genitalia. Both males and females are born with this anomaly. Treatment is similar.

In males treatments have been:

In the modern staged repair of exstrophy (MSRE) the initial step is closure of the abdominal wall, often requiring a pelvic osteotomy. This leaves the patient with penile epispadias and urinary incontinence. At approximately 2–3 years of age the patient then undergoes repair of the epispadias after testosterone stimulation. Finally, bladder neck repair usually occurs around the age of 4–5 years, though this is dependent upon a bladder with adequate capacity and, most importantly, an indication that the child is interested in becoming continent.

In the complete primary repair of exstrophy (CPRE) the bladder closure is combined with an epispadias repair, in an effort to decrease costs and morbidity. This technique has, however, led to significant loss of penile and corporal tissue, particularly in younger patients.

In females treatment has included:

Surgical reconstruction of the clitoris which is separated into two distinct bodies. Surgical reconstruction to correct the split of the mons, redefine the structure of the bladder neck and urethra. Vaginoplasty will correct the anteriorly displaced vagina. If the anus is involved, it is also repaired. Fertility remains and women who were born with bladder extrophy usually develop prolapse due to the weaker muscles of the pelvic floor.

The application of corticosteroids to treat contact granulomas is considered a more extreme approach and its utility remains in contention. When employed, it is usually used in conjunction with antibiotics for the reduction of pain and inflammation related to the granuloma. This treatment can be administered orally, through inhalation, or through intralesion injection.

Successful treatment of the associated underlying disorder, such as GORD or hiatus hernia, may provide relief.

CDPX1 activity may be inhibited by warfarin because it is believed that ARSE has enzymatic activity in a vitamin K producing biochemical pathway. Vitamin K is also needed for controlling binding of calcium to bone and other tissues within the body.

Urofacial (Ochoa) syndrome received the Ochoa name because of the first person to describe it back in 1987, Bernardo Ochoa.

The aim of treatment is to reduce renal scarring. Those children with grade II or worse should receive low dose prophylactic antibiotics (Nitrofurantoin, trimethoprim, cotrimoxazole, cefalexin in those with CRF). Hypertension should be managed with ACE inhibitor or ARBs. Other treatment modalities include surgery (endoscopic injection of collagen behind the intra-vesical ureter, ureteric re-implantation or lengthening of the submucosal ureteric tunnel) which has its protagonists.

1. Clinical Genetics and Genetic Testing

Genetic testing is necessary to confirm the diagnosis of PMS. A prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small to detect with this method. Chromosomal microarray should be ordered in children with suspected developmental delays or ASD. Most cases will be identified by microarray; however, small variations in genes might be missed. The falling cost for whole exome sequencing may replace DNA microarray technology for candidate gene evaluation. Biological parents should be tested with fluorescence "in situ" hybridization (FISH) to rule out balanced translocations or inversions. Balanced translocation in a parent increases the risk for recurrence and heritability within families (figure 3).

Clinical genetic evaluations and dysmorphology exams should be done to evaluate growth, pubertal development, dysmorphic features (table 1) and screen for organ defects (table 2)

2. Cognitive and Behavioral Assessment

All patients should undergo comprehensive developmental, cognitive and behavioral assessments by clinicians with experience in developmental disorders. Cognitive evaluation should be tailored for individuals with significant language and developmental delays. All patients should be referred for specialized speech/language, occupational and physical therapy evaluations.

3. Neurological Management

Individuals with PMS should be followed by a pediatric neurologist regularly to monitor motor development, coordination and gait, as well as conditions that might be associated with hypotonia. Head circumference should be performed routinely up until 36 months. Given the high rate of seizure disorders (up to 41% of patients) reported in the literature in patients with PMS and its overall negative impact on development, an overnight video EEG should be considered early to rule out seizure activity. In addition, a baseline structural brain MRI should be considered to rule out the presence of structural abnormalities.

4. Nephrology

All patients should have a baseline renal and bladder ultrasonography and a voiding cystourethrogram should be considered to rule out structural and functional abnormalities. Renal abnormalities are reported in up to 38% of patients with PMS. Vesicouretral reflux, hydronephrosis, renal agenesis, dysplasic kidney, polycystic kidney and recurrent urinary tract infections have all been reported in patients with PMS.

5. Cardiology

Congenital heart defects (CHD) are reported in samples of children with PMS with varying frequency (up to 25%)(29,36). The most common CHD include tricuspid valve regurgitation, atrial septal defects and patent ductus arteriousus. Cardiac evaluation, including echocardiography and electrocardiogram, should be considered.

6. Gastroenterology

Gastrointestinal symptoms are common in individuals with PMS. Gastroesophageal reflux, constipation, diarrhea and cyclic vomiting are frequently described.

Table 3: Clinical Assessment Recommendations in Phelan McDermid Syndrome.

Treatment consists of painkillers and surgical ablation of the dilated vein. This can be accomplished with open abdominal surgery (laparotomy) or keyhole surgery (laparoscopy). Recently, the first robot-assisted surgery was described.

Another approach to treatment involves catheter-based embolisation, often preceded by phlebography to visualise the vein on X-ray fluoroscopy.

Ovarian vein coil embolisation is an effective and safe treatment for pelvic congestion syndrome and lower limb varices of pelvic origin. Many patients with lower limb varices of pelvic origin respond to local treatment i.e. ultrasound guided sclerotherapy. In those cases, ovarian vein coil embolisation should be considered second line treatment to be used if veins recur in a short time period i.e. 1–3 years. This approach allows further pregnancies to proceed if desired. Coil embolisation is not appropriate if a future pregnancy is possible. This treatment has largely superseded operative options.

Coil embolisation requires exclusion of other pelvic pathology, expertise in endovascular surgery, correct placement of appropriate sized coils in the pelvis and also in the upper left ovarian vein, careful pre- and post-procedure specialist vascular ultrasound imaging, a full discussion of the procedure with the patient i.e. informed consent. Complications, such as coil migration, are rare but reported. Their sequelae are usually minor.

If a Nutcracker compression (see below) is discovered, stenting of the renal vein should be considered before embolization of the ovarian vein. Reducing outflow obstruction should always be the main objective.

The Cornelia de Lange Syndrome (CdLS) Foundation is a nonprofit, family support organization based in Avon, Connecticut, that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives.

The frequency is unknown, but the disease is considered to be very rare.

Hypersalivation is optimally treated by treating or avoiding the underlying cause. Mouthwash and tooth brushing may have drying effects.

In the palliative care setting, anticholinergics and similar drugs that would normally reduce the production of saliva causing a dry mouth could be considered for symptom management: scopolamine, atropine, propantheline, hyoscine, amitriptyline, glycopyrrolate.

A 2008 systematic review investigated the efficacy of pharmacological interventions for patients who have too much salvia due to clozapine treatment:

Psychological interventions including psychotherapy, cognitive behavioural therapy (CBT), Biofeedback, and teaching self-hypnosis are also suggested to treat VCD. Intervention is generally targeted at making the client aware of stressors that may trigger VCD symptoms, to implement strategies to reduce stress and anxiety, and to teach techniques for coping with their symptoms.

CBT can focus on bringing awareness to negative thought patterns and help reframe them by focusing on problem solving strategies. Psychologists may also use relaxation to reduce distress when a patient is experiencing symptoms. Biofeedback can be a helpful addition to psychotherapy. The aim of Biofeedback is to educate the client on what happens to the vocal cords during breathing and to help them learn to control their symptoms.

Choosing an intervention strategy needs to be assessed by a multidisciplinary team and individualized therapy planned carefully, keeping the characteristics of each patient in mind.

Medical often works in conjunction with behavioral approaches. A pulmonary or ENT (otolaryngologist) specialist will screen for and address any potential underlying pathology that may be associated with VCD. Managing GERD has also been found to relieve laryngospasm, a spasm of the vocal cords that makes breathing and speaking difficult.

Non-invasive positive pressure ventilation can be used if a patient's vocal cords adduct (close) during exhalation. Mild sedatives have also been employed to reduce anxiety as well as reduce acute symptoms of VCD. Benzodiazepines are an example of one such treatment, though they have been linked to a risk of suppression of the respiratory drive. While Ketamine, a dissociative anesthetic, does not suppress respiratory drive, it has been thought to be associated with laryngospasms.

For more severe VCD cases, physicians may inject botulinum toxin into the vocal (thyroarytenoid) muscles to weaken or decrease muscle tension. Nebulized Lignocaine can also been used in acute cases and helium-oxygen inhalation given by face mask has been used in cases of respiratory distress.