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There is no known specific treatment for this condition. Management is supportive.
There are no treatment to return to its normal functions. However, there are treatments for the different symptoms.
For the Developmental symptoms, Educational intervention and speech therapy beginning in infancy could help to reduce the high risk for motor, cognitive, speech, and language delay
For theSkeletal features, referral to an orthopedist for consideration of surgical release of contractures. In addition,early referral to physical therapy could help increase joint mobility.
Lastly, Thyroid hormone replacement could help out the thyroid dysfunction
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.
Around 5 years of age, surgical correction may be necessary to prevent any worsening of the deformity. If the mother has dysplasia, caesarian delivery may be necessary. Craniofacial surgery may be necessary to correct skull defects. Coxa vara is treated by corrective femoral osteotomies. If there is brachial plexus irritation with pain and numbness, excision of the clavicular fragments can be performed to decompress it. In case of open fontanelle, appropriate headgear may be advised by the orthopedist for protection from injury.
Many of the congenital malformations found with Malpuech syndrome can be corrected surgically. These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a caudal appendage or scoliosis, and hernias of the umbillicus. The primary area of concern for these procedures applied to a neonate with congenital disorders including Malpuech syndrome regards the logistics of anesthesia. Methods like tracheal intubation for management of the airway during general anesthesia can be hampered by the even smaller, or maldeveloped mouth of the infant. For regional anesthesia, methods like spinal blocking are more difficult where scoliosis is present. In a 2010 report by Kiernan et al., a four-year-old girl with Malpuech syndrome was being prepared for an unrelated tonsillectomy and adenoidectomy. While undergoing intubation, insertion of a laryngoscope, needed to identify the airway for the placement of the endotracheal tube, was made troublesome by the presence of micrognathia attributed to the syndrome. After replacement with a laryngoscope of adjusted size, intubation proceeded normally. Successful general anesthesia followed.
A rare follow-up of a male with Malpuech syndrome was presented by Priolo et al. (2007). Born at term from an uneventful pregnancy and delivery, the infant underwent a surgical repair of a cleft lip and palate. No problems were reported with the procedure. A heart abnormality, atrial septal defect, was also apparent but required no intervention. At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. Over the course of the decade that followed, a number of psychiatric evaluations were performed. At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. This array of symptoms were treated pharmocologically (with prescription medications). He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia.
There is no single course of medical treatment or cure for Möbius syndrome. Treatment is supportive and in accordance with symptoms. If they have difficulty nursing, infants may require feeding tubes or special bottles to maintain sufficient nutrition. Physical, occupational, and speech therapy can improve motor skills and coordination and can lead to better control of speaking and eating abilities. Often, frequent lubrication with eye drops is sufficient to combat dry eye that results from impaired blinking. Surgery can correct crossed eyes, protect the cornea via tarsorraphy, and improve limb and jaw deformities. Sometimes called smile surgery by the media, muscle transfers grafted from the thigh to the corners of the mouth can be performed to provide the ability to smile. Although "smile surgery" may provide the ability to smile, the procedure is complex and can take twelve hours for each side of the face. Also, the surgery cannot be considered a "cure" for Möbius syndrome, because it does not improve the ability to form other facial expressions.
Several studies have reported that life expectancy appears to be normal for people with CCD.
Depending on the severity of the deformities, the treatment may include the amputation of the foot or part of the leg, lengthening of the femur, extension prosthesis, or custom shoe lifts. Amputation usually requires the use of prosthesis. Another alternative is a rotationplasty procedure, also known as Van Ness surgery. In this situation the foot and ankle are surgically removed, then attached to the femur. This creates a functional "knee joint". This allows the patient to be fit with a below knee prosthesis vs a traditional above knee prosthesis.
In less severe cases, the use of an Ilizarov apparatus can be successful in conjunction with hip and knee surgeries (depending on the status of the femoral head/kneecap) to extend the femur length to normal ranges. This method of treatment can be problematic in that the Ilizarov might need to be applied both during early childhood (to keep the femur from being extremely short at the onset of growth) and after puberty (to match leg lengths after growth has ended). The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD.
Most patients with hyper IgE syndrome are treated with long-term antibiotic therapy to prevent staphylococcal infections. Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and atopic dermatitis.
Vestronidase alfa-vjbk (Mepsevii) is the only drug approved by U.S. Food and Drug Administration for the treatment of pediatric and adult patients.
Most of these conditions are self-correcting during childhood. In the worst cases, surgery may be needed. Most of the time, this involves lengthening the Achilles tendon. Less severe treatment options for pigeon toe include keeping a child from crossing his or her legs, use of corrective shoes, and casting of the foot and lower legs, which is normally done before the child reaches 12 months of age or older.
If the pigeon toe is mild and close to the center, treatment may not be necessary.
Ballet has been used as a treatment for mild cases. Dance exercises can help to bend the legs outward.
Plica syndrome treatment focuses on decreasing inflammation of the synovial capsule. A nonsteroidal anti-inflammatory drug (NSAID) is often used in conjunction with therapeutic exercise and modalities. Iontophoresis and phonophoresis have been utilized successfully against inflammation of the plica and synovial capsule. Failing these, surgical removal of the plica of the affected knee may be necessary.
Treatment remains largely supportive. The behavioral disturbances of MPS-III respond poorly to medication. If an early diagnosis is made, bone marrow replacement may be beneficial. Although the missing enzyme can be manufactured and given intravenously, it cannot penetrate the blood–brain barrier and therefore cannot treat the neurological manifestations of the disease.
Along with many other lysosomal storage diseases, MPS-III exists as a model of a monogenetic disease involving the central nervous system.
Several promising therapies are in development. Gene therapy in particular is under Phase I/II clinical trial in France since October 2011 under the leadership of Paris-based biotechnology company Lysogene. Other potential therapies include chemical modification of deficient enzymes to allow them to penetrate the blood–brain barrier, stabilisation of abnormal but active enzyme to prevent its degradation, and implantation of stem cells strongly expressing the missing enzyme. For any future treatment to be successful, it must be administered as early as possible. Currently MPS-III is mainly diagnosed clinically, by which stage it is probably too late for any treatment to be very effective. Neonatal screening programs would provide the earliest possible diagnosis.
The flavonoid genistein decreases the pathological accumulation of glycosaminoglycans in Sanfilippo syndrome. "In vitro", animal studies and clinical experiments suggest that the symptoms of the disease may be alleviated by an adequate dose of genistein. Despite its reported beneficial properties, genistein also has toxic side effects.
Several support and research groups have been established to speed the development of new treatments for Sanfilippo syndrome.
The goals of treatment are to decrease pain, reduce the loss of hip motion, and prevent or minimize permanent femoral head deformity so that the risk of developing a severe degenerative arthritis as adult can be reduced. Assessment by a pediatric orthopaedic surgeon is recommended to evaluate risks and treatment options. Younger children have a better prognosis than older children.
Treatment has historically centered on removing mechanical pressure from the joint until the disease has run its course. Options include traction (to separate the femur from the pelvis and reduce wear), braces (often for several months, with an average of 18 months) to restore range of motion, physiotherapy, and surgical intervention when necessary because of permanent joint damage. To maintain activities of daily living, custom orthotics may be used. Overnight traction may be used in lieu of walking devices or in combination. These devices internally rotate the femoral head and abduct the leg(s) at 45°. Orthoses can start as proximal as the lumbar spine, and extend the length of the limbs to the floor. Most functional bracing is achieved using a waist belt and thigh cuffs derived from the Scottish-Rite orthosis. These devices are typically prescribed by a physician and implemented by an orthotist. Clinical results of the Scottish Rite orthosis have not been good according to some studies, and its use has gone out of favor. Many children, especially those with the onset of the disease before age 6, need no intervention at all and are simply asked to refrain from contact sports or games which impact the hip. For older children (onset of Perthes after age 6), the best treatment option remains unclear. Current treatment options for older children over age 8 include prolonged periods without weight bearing, osteotomy (femoral, pelvic, or shelf), and the hip distraction method using an external fixator which relieves the hip from carrying the body's weight. This allows room for the top of the femur to regrow. The Perthes Association has a "library" of equipment which can be borrowed to assist with keeping life as normal as possible, newsletters, a helpline, and events for the families to help children and parents to feel less isolated.
While running and high-impact sports are not recommended during treatment for Perthes disease, children can remain active through a variety of other activities that limit mechanical stress on the hip joint. Swimming is highly recommended, as it allows exercise of the hip muscles with full range of motion while reducing the stress to a minimum. Cycling is another good option as it also keeps stress to a minimum. Physiotherapy generally involves a series of daily exercises, with weekly meetings with a physiotherapist to monitor progress. These exercises focus on improving and maintaining a full range of motion of the femur within the hip socket. Performing these exercises during the healing process is essential to ensure that the femur and hip socket have a perfectly smooth interface. This will minimize the long-term effects of the disease. Use of bisphosphonate such as zoledronate or ibandronate is currently being investigated, but definite recommendations are not yet available.
Perthes disease is self-limiting, but if the head of femur is left deformed, long-term problems can occur. Treatment is aimed at minimizing damage while the disease runs its course, not at 'curing' the disease. It is recommended not to use steroids or alcohol as these reduce oxygen in the blood which is needed in the joint. As sufferers age, problems in the knee and back can arise secondary to abnormal posture and stride adopted to protect the affected joint. The condition is also linked to arthritis of the hip, though this appears not to be an inevitable consequence. Hip replacements are relatively common as the already damaged hip suffers routine wear; this varies by individual, but generally is required any time after age 50.
The treatment of FAI varies. Conservative treatment includes reducing levels of physical activity, anti-inflammatory medication and physiotherapy. Physical therapy may optimize alignment and mobility of the joint, thereby decreasing excessive forces on irritable or weakened tissues. It may also identify specific movement patterns that may be causing injury.
Due to the frequency of diagnosis in adolescents and young adults, various surgical techniques have been developed with the goal of preserving the hip joint. Surgery may be arthroscopic or open, peri-acetabular or rotational osteotomies being two common open surgical techniques employed when an abnormal angle between femur and acetabulum has been demonstrated. These primarily aim to alter the angle of the hip socket in such a way that contact between the acetabulum and femoral head are greatly reduced, allowing a greater range of movement. Femoral sculpting may be performed simultaneously, if required for a better overall shape of the hip joint. It is unclear whether or not these interventions effectively delay or prevent the onset of arthritis. Well designed, long term studies evaluating the efficacy of these treatments have not been done.
A 2011 study analyzing current surgical methods for management of symptomatic femoral acetabular impingement (FAI), suggested that arthroscopic method had surgical outcomes equal to or better than other methods with a lower rate of major complications when performed by experienced surgeons.
Treatment involves revascularization typically using either angioplasty or a type of vascular bypass
- Kissing balloon angioplasty +/- stent, so named because the two common iliac stents touch each other in the distal aorta.
- Aorto-iliac bypass graft
- Axillary-bi-femoral and femoral-femoral bypass (sometimes abbreviated "ax-fem fem-fem")
Urofacial (Ochoa) syndrome received the Ochoa name because of the first person to describe it back in 1987, Bernardo Ochoa.
One dental textbook defines it as: “Dollicofacial, there is excess of lower facial height usually associated with lower occlusal and mandibular plane angles.” This is often associated “with vertical maxillary excess and mandibular hypoplasia.” Luc P. M. Tourne, a Fellow in the Department of TMJ and Craniofacial Pain at the University of Minnesota School of Dentistry, noted: "There is a clinically recognizable facial morphology, the long face syndrome, which has been incompletely described in the literature," However, her study of 31 adults with this syndrome, which included "analysis of esthetics, skeletal morphology, and occlusion" confirmed "this basic dentofacial deformity" has associations " with excessive vertical growth of the maxilla." She reported that closed bite and dental open are two pf the syndrome's variants.
The treatment for young patients troubled by long face syndrome is to halt and control descent of the lower jaw and to prevent the eruption of posterior teeth. In severe cases of deformity, a mixture of orthodontics and orthognathic surgery may be the only effective solution. The long term (more than 6 years) effectiveness of surgical treatments for long face syndrome has been subject to study.
"In the American literature, the terms long-face syndrome and short-face syndrome are often used." To be sure, there are reported "long and the short face anomalies" and open bite cases. However, in the opinion of Hugo Obwegeser, there is no medical justification for naming theme as a "syndrome" the signs and symptoms do not meet the definitional threshold.
There is controversy concerning the use of the descriptor "long-face syndrome." While increased anterior "total and lower face height" in many ages, combined with vertical maxillary excess in adults has been observed, the causes are controversial. Specifically, there is disagreement about possible potential environmental influences on genetic components.
Anecdotally, it was said to be a genetic condition, which could only be corrected with “massive amounts” of debilitating, frequent and long dental and facial reconstructive surgery.
For children, there is a concern that mouth breathing can contribute to the development of long face syndrome. A recent study finds that it is a growing problem which should be treated as "It won't just go away." In addition to mouth breathing, it may be associated with sleep apnea.
Because of Long face syndrome's sometime association with pediatric obstructive sleep apnea (OSA) and allergic reactions, it is essential that treating physicians differentiate the conditions and the treatments; treating one may not cure the other. Multilevel coblation surgery is sometimes used to correct moderate to severe OSA, and Long Face Syndrome can be a rare factor in considering surgery.
Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.
The disease can be treated with external in-situ pinning or open reduction and pinning. Consultation with an orthopaedic surgeon is necessary to repair this problem. Pinning the unaffected side prophylactically is not recommended for most patients, but may be appropriate if a second SCFE is very likely.
Once SCFE is suspected, the patient should be non-weight bearing and remain on strict bed rest. In severe cases, after enough rest the patient may require physical therapy to regain strength and movement back to the leg. A SCFE is an orthopaedic emergency, as further slippage may result in occlusion of the blood supply and avascular necrosis (risk of 25 percent). Almost all cases require surgery, which usually involves the placement of one or two pins into the femoral head to prevent further slippage. The recommended screw placement is in the center of the epiphysis and perpendicular to the physis. Chances of a slippage occurring in the other hip are 20 percent within 18 months of diagnosis of the first slippage and consequently the opposite unaffected femur may also require pinning.
The risk of reducing this fracture includes the disruption of the blood supply to the bone. It has been shown in the past that attempts to correct the slippage by moving the head back into its correct position can cause the bone to die. Therefore the head of the femur is usually pinned 'as is'. A small incision is made in the outer side of the upper thigh and metal pins are placed through the femoral neck and into the head of the femur. A dressing covers the wound.
Singleton Merten Syndrome is an autosomal dominate genetic disorder with variable expression with an onset of symptoms during childhood.
The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.
Treatment varies. In most cases, the best treatment is to remove the cause of compression by modifying patient behavior, in combination with medical treatment to relieve inflammation and pain. Whatever the cause, typical treatment takes several weeks to months—depending on the degree of nerve damage. Typical treatment options include:
- Active Release Technique (ART) soft tissue treatment
- Wearing looser clothing and suspenders rather than belts
- Weight loss if obesity is present
- Non-steroidal anti-inflammatory drugs (NSAIDs) to reduce inflammatory pain if pain level limits motion and prevents sleep
- Reducing physical activity in relation to pain level. Acute pain may require absolute bed rest
- Deep tissue massage to reduce tension in the gluteal muscles, most commonly the gluteus maximus. The tensor fasciae latae may also be implicated.
The lateral cutaneous nerve of the thigh can occasionally be damaged during laparoscopic hernia repair, or scarring from the operation can lead to meralgia paraesthetica.
For lower pain levels, treatment may involve having the patient:
- Seek appropriate physical therapy, such as stretching and massage, which plays a large role in the management of pain
- Learn to perform inguinal ligament stretching (from a physical therapist or from a YouTube video) which can rapidly relieve symptoms
- Use rest periods to interrupt long periods of standing, walking, cycling, or other aggravating activity
- Lose weight, and exercise to strengthen abdominal muscles
- Wear clothing that is loose at the upper front hip area
- Apply heat, ice, or electrical stimulation
- Take nonsteroidal anti-inflammatory medications for 7–10 days
- Remove hair in affected area (shave)
- Lidocaine patches (must shave area first)
- Titanium dioxide patches to interfere with the electrostatic effect of the nerves on the surface of the skin
Pain may take significant time (weeks) to stop and, in some cases, numbness persists despite treatment. In severe cases, the physician might perform a local nerve block at the inguinal ligament, using a combination of local anaesthetic (lidocaine) and corticosteroids to provide relief that may last several weeks. Pain modifier drugs for neuralgic pain (such as amitriptyline, carbamazepine or gabapentin) may be tried, but are often not as helpful in the majority of patients.
Persistent and severe cases may require surgery to decompress the nerve or, as a last resort, to resect the nerve. The latter treatment leaves permanent numbness in the area.
Early hip dysplasia can often be treated using a Pavlik harness (see photograph) or the Frejka pillow/splint in the first year of life with usually normal results. Complications can occur when using the Pavlik Harness. Cases of Femoral Nerve Palsy and Avascular Necrosis of the femoral head have been reported with the use of the Pavlik harness, but whether these cases were due to improper application of the device or a complication encountered in the course of the disorder remains unresolved. Complications arise mainly because the sheet of the iliopsoas muscle pushes circumflex artery against the neck of the femur and decreases blood flow to the femoral head, so the Frejka pillow is not indicated in all the forms of the developmental dysplasia of the hip.
Other devices employed include the spica cast, particularly following surgical closed reduction, open reduction, or osteotomy in babies and young children. Traction is sometimes used in the weeks leading up to a surgery to help stretch ligaments in the hip joint, although its use is controversial and varies amongst physicians.
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is currently unknown and there are no known treatments.