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The timing of surgical interventions is debatable. Parents have to decide about their child in a very vulnerable time of their parenthood. Indications for early treatment are progressive deformities, such as syndactyly between index and thumb or transverse bones between the digital rays. Other surgical interventions are less urgent and can wait for 1 or 2 years.
Surgical treatment of the cleft hand is based on several indications:
Improving function
- Absent thumb
- Deforming syndactyly (mostly between digits of unequal length like index and thumb)
- Transverse bones (this will progress the deformity; growth of these bones will widen the cleft)
- Narrowed first webspace
- The feet
Aesthetical aspects
- Reducing deformity
Because neither of the two thumb components is normal, a decision should be taken on combining which elements to create the best possible composite digit. Instead of amputating the most hypoplastic thumb, preservation of skin, nail, collateral ligaments and tendons is needed to augment the residual thumb. Surgery is recommended in the first year of life, generally between 9 and 15 months of age.
Surgical options depend on type of polydactyly.
This type of procedure is recommended for Wassel types 1 and 2 (in which both thumbs are severely hypoplastic) by some congenital hand surgeons. The technique contains a composite wedge resection of the central bone and soft-tissue. This will be achieved with approach of the lateral tissue of each thumb. The goal is to achieve a normal thumb, what concerns the size, which is possible. If the width of the nail bed is greater than 70% of the contralateral thumb, it may be split. Then the nail bed will be repaired precisely.
Simple surgical excision is curative. The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages.
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.
With so few individuals actually surviving until birth, the only treatment option is surgery to try to remove the parasitic twin. Surgery, however, is very dangerous and has been successful only once. The problem with surgical intervention is that the arterial supplies of the head are so intertwined that it is very hard to control the bleeding, and it has been suggested that cutting off the parasitic twin's arterial supply might improve the odds of the developed twin's survival.
First options for treatment are conservative, using hot or cold packs, rest and NSAID's at first. If no improvement is made, a splint or brace can be used to keep the deviated arm straight. When none of the conservative treatments work surgical intervention is designated.
Typically, treatment for this condition requires a team of specialists and surgery. Below are the treatments based on the symptom.
"Ulna reduction"
Adults with Madelung’s deformity may suffer from ulnar-sided wrist pain. Madelung's Deformity is usually treated by treating the distal radial deformity. However, if patients have a positive ulnar variance and focal wrist pathology, it’s possible to treat with an isolated ulnar-shortening osteotomy. In these patients the radial deformity is not treated.
The ulna is approached from the subcutaneous border. A plate is attached to the distal end of the ulna, to plan the osteotomy. An oblique segment is removed from the ulna, after which the distal radial-ulnar joint is freed, making sure structures stay attached to the styloid process. After this, the freed distal end is reattached to the proximal ulna with the formerly mentioned plate.
"Total DRUJ replacement"
An alternative treatment for patients with ulnar-sided wristpain is a total replacement of the distal radial-ulnar joint. There are many surgical treatments of the condition, but most of these only improve the alignment and function of the radiocarpal joint. A persistent problem in these treatments has been the stiff DRUJ. However, a prosthesis helps in managing the pain, and might also improve the range of motion of the wrist.
The procedure consists of making a hockey-stick shaped incision along the ulnar border. This incision is made between the fifth and sixth dorsal compartment. Being careful not to harm any essential structures, like the posterior interosseous nerve, the incision is continued between the extensor carpi ulnaris and the extensor digiti quinti, until the ulna is found. The ulnar head is then removed. A guide wire is then inserted in the medullary canal of the ulna, allowing centralization for a cannulated drill bit. A poly-ethylene ball, which will serve as the prosthesis, is then placed over the distal peg. After confirming full range of motion, the skin will be closed.
"Dome Osteotomy"
In case of Madelung's Deformity in conjunction with radial pain, a dome osteotomy may be conducted. For more information about this procedure, please refer to the treatment of Madelung's Deformity in children.
There is currently recruitment for a clinical trial at Boston's Children Hospital.
Emanuel Syndrome does not have a cure, but individual symptoms may be treated. Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic, and neurological may be necessary to determine the extent of impairment and options for treatment.
Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives. The cited study grouped Edwards syndrome, which is sometimes survivable beyond toddlerhood, along with Patau, hence the median age of 4 at the time of data collection.
In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent respiratory infections in the affected individual are management "measures" that can be taken.
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
Treatment of cause: Due to the genetic cause, no treatment of the cause is possible.
Treatment of manifestations: routine treatment of ophthalmologic, cardiac, and neurologic findings; speech, occupational, and physical therapies as appropriate; specialized learning programs to meet individual needs; antiepileptic drugs or antipsychotic medications as needed.
Surveillance: routine pediatric care; routine developmental assessments; monitoring of specific identified medical issues.
Since the symptoms caused by this disease are present at birth, there is no “cure.” The best cure that scientists are researching is awareness and genetic testing to determine risk factors and increase knowledgeable family planning. Prevention is the only option at this point in time for a cure.
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
Most patients suffering from KTS have epilepsy that is resistant to anti-epileptic agents. Some patients showed a partial response to treatment, but very few were able to stop their epilepsy through treatment. One case was responsive to treatment using Phenobartbital and vigabatrin which are both anti-epileptic agents. Spasticity can be treated with baclofen, but not all patients are responsive to the treatment.
Diprosopus (Greek , "two-faced", from , ', "two" and , ' [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek , "skull", the other parts Latin), is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.
Since the syndrome is caused by a genetic mutation in the individual's DNA, a cure is not available. Treatment of the symptoms and management of the syndrome, however, is possible.
Depending on the manifestation, surgery, increased intake of glucose, special education, occupational therapy, speech therapy, and physical therapy are some methods of managing the syndrome and associated symptoms.
Because the variability of this disease is so great and the way that it reveals itself could be multi-faceted; once diagnosed, a multidisciplinary team is recommended to treat the disease and should include a craniofacial surgeon, ophthalmologist, pediatrician, pediatric urologist, cardiologist, pulmonologist, speech pathologist, and a medical geneticist. Several important steps must be followed, as well.
- Past medical history
- Physical examination with special attention to size and measurements of facial features, palate, heart, genitourinary system and lower respiratory system
- Eye evaluation
- Hypospadias assessment by urologist
- Laryngoscopy and chest x-ray for difficulties with breathing/swallowing
- Cleft lip/palate assessment by craniofacial surgeon
- Assessment of standard age developmental and intellectual abilities
- Anal position assessment
- Echocardiogram
- Cranial imaging
Many surgical repairs may be needed, as assessed by professionals. Furthermore, special education therapies and psychoemotional therapies may be required, as well. In some cases, antireflux drugs can be prescribed until risk of breathing and swallowing disorders are removed. Genetic counseling is highly advised to help explain who else in the family may be at risk for the disease and to help guide family planning decisions in the future.
Because of its wide variability in which defects will occur, there is no known mortality rate specifically for the disease. However, the leading cause of death for people with Opitz G/BBB syndrome is due to infant death caused by aspiration due to esophageal, pharyngeal or laryngeal defects.
Fortunately, to date there are no factors that can increase the expression of symptoms of this disease. All abnormalities and symptoms are present at birth.
In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line") and is found in people with Down Syndrome. It is also found in 1.5% of the general population in at least one hand.
Because it resembles the usual condition of non-human simians, it is also known as a simian crease or simian line, although these terms have widely fallen out of favor due to their pejorative connotation.
Because polyorchidism is very uncommon, there is no standard treatment for the condition. Prior to advances in ultrasound technology, it was common practice to remove the supernumerary testicle. Several cases have been described where routine follow-up examinations conducted over a period of years showed that the supernumerary testicle was stable.
A meta-analysis in 2009 suggested removing non-scrotal supernumerary testicles because of the increased risk of cancer, and regular follow-up in the remaining cases to ensure that the supernumerary testicle remains stable.