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Treatment of congenital clasped thumb includes two types of therapy: conservative and surgical.
Treatment of all categories of congenital clasped thumbs should start with either serial plaster casting or wearing a static or dynamic splint for a period of six months, while massaging the hand. Extension by splinting shows reduction of the flexion contracture. To gain optimal results, it is important to start this treatment before the age of six months. The result of this therapy is better in less severe deformities. In most uncomplicated cases, a satisfactory result can be gained when splint therapy starts before the age of six months. Splinting should be tried for at least three months and possibly for as long as six months or longer. If the result of splint therapy stagnates, surgery treatment is indicated.
In most cases persisting after childhood, there is little or no effect on the ability to walk. Due to uneven stress and wear on the knees, however, even milder manifestations can see an accelerated onset of arthritis.
Treatment for children with Blount's disease is typically braces but surgery may also be necessary, especially for teenagers. The operation consists of removing a piece of tibia, breaking the fibula and straightening out the bone; there is also a choice of elongating the legs. If not treated early enough, the condition worsens quickly.
A cubitus varus deformity is more cosmetic than limiting of any function, however internal rotation of the radius over the ulna may be limited due to the overgrowth of the humerus. This may be noticeable during an activity such as using a computer mouse.
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.
Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.
Until more molecular and clinical studies are performed there will be no way to prevent the disease. Treatments are directed towards alleviating the symptoms. To treat the disease it is crucial to diagnose it properly. Orthopedic therapy and fracture management are necessary to reduce the severity of symptoms. Bisphosphonate drugs are also an effective treatment.
Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by de novo mutations is unknown because of the small number of individuals described. If a parent of the proband is affected, the risk to the siblings is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. Each child of an individual with HFGS has a 50% chance of inheriting the mutation. Prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified in an affected family member.
Cubitus varus is not able to be diagnosed until after healing of the prior fracture, as the arm must be in full extension, not flexion, for the deformity to be noticed.
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.
Morton's Toe is a minority variant of foot shape. Its recorded prevalence varies in different populations, with estimates from 2.95% to 22%.
Persons with knock knees often have collapsed inner arches of their feet, and their inner ankle bones are generally lower than their outer ankle bones. Adults with uncorrected genu valgum are typically prone to injury and chronic knee problems such as chondromalacia and osteoarthritis. These in turn can cause severe pain and problems in walking.
It is normal for children to have knock knees between the ages of two and five years of age, and almost all of them resolve as the child grows older. If symptoms are prolonged and pronounced or hereditary, doctors often use orthotic shoes or leg braces at night to gently move a child's leg back into position. If the condition persists and worsens later in life, surgery may be required to relieve pain and complications resulting from severe or hereditary genu valgum. Available surgical procedures include adjustments to the lower femur and total knee replacement (TKR).
Weight loss and substitution of high-impact for low-impact exercise can help slow progression of the condition. With every step, the patient's weight places a distortion on the knee toward a knocked knee position, and the effect is increased with increased angle or increased weight. Even in the normal knee position, the femurs function at an angle because they connect to the hip girdle at points much further apart than they connect at the knees.
Physical therapy is generally of benefit to people with knock knees. To correct knock knees, the entire leg must be treated, especially:
1. Activating and developing the arches of the feet,
2. Waking up the outer leg muscles (abductors), and
3. Learning how to move the inner ankle bone inwards towards the outer ankle bone, and upwards towards the knee.
Working with a physical medicine specialist such as a physiatrist, or a physiotherapist may assist a patient learning how to improve outcomes and use the leg muscles properly to support the bone structures. Alternative or complementary treatments may include certain procedures from Iyengar Yoga or the Feldenkrais Method.
Rarely, the bone malformation underlying knock knees can be traced to a lack of nutrition necessary for bone growth, which can cause conditions such as rickets (lack of bone nutrients, especially dietary vitamin D and calcium), or scurvy (lack of vitamin C). The correction of the underlying vitamin deficiency may restore a more normal progression of bone growth.
Treatment: There is no treatment or way to reverse the disease. Treatment will focus on the symptoms an individual has, such as seizure medication.
- It is possible that if an individual receives a bone marrow transplant, they could receive healthy bone marrow cells which would produce normal amounts of fucosidase. But there not is enough research to prove this is an effective treatment.
Asymptomatic anatomical variations in feet generally do not need treatment.
Conservative treatment for foot pain with Morton's toe may involve exercises or placing a flexible pad under the first toe and metatarsal; an early version of the latter treatment was once patented by Dudley Joy Morton. Restoring the Morton’s toe to normal function with proprioceptive orthotics can help alleviate numerous problems of the feet such as metatarsalgia, hammer toes, bunions, Morton's neuroma, plantar fasciitis, and general fatigue of the feet. Rare cases of disabling pain are sometimes treated surgically.
Oculocutaneous Albinism Type I or –Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type of albinism is caused when the gene OCA1 does not function properly.
The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1.
While genu valgum is often a symptom of genetic disorders it can be caused by poor nutrition. A major contributor to genu valgum is obesity, and far less commonly calcium and vitamin d deficiencies.
Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases being occurring in Italy, Cuba, and the southwest U.S. The disease has three different types. Type 1 and 2 are considered severe, and Type 3 being a mild disease. Symptoms are highly variable with mild cases being able to live to within the third or fourth decade. Type 1 and 2 are both linked with mental retardation. Severe cases can develop life-threatening complications early in childhood.
Because the major accumulating glycoconjugate in fucosidosis patients is the blood group H-antigen, it is intriguing to speculate, but the evidence is not clear at this time, that blood type may affect the course of the disease.
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.
Café au lait spots can be removed with lasers. Results are variable as the spots are often not completely removed or can come back after treatment. Often, a test spot is treated first to help predict the likelihood of treatment success.
Surgical treatment is only initiated if there is severe pain, as the available operations can be difficult. Otherwise, high arches may be handled with care and proper treatment.
Suggested conservative management of patients with painful pes cavus typically involves strategies to reduce and redistribute plantar pressure loading with the use of foot orthoses and specialised cushioned footwear. Other non-surgical rehabilitation approaches include stretching and strengthening of tight and weak muscles, debridement of plantar callosities, osseous mobilization, massage, chiropractic manipulation of the foot and ankle, and strategies to improve balance. There are also numerous surgical approaches described in the literature that are aimed at correcting the deformity and rebalancing the foot. Surgical procedures fall into three main groups:
1. soft-tissue procedures (e.g. plantar fascia release, Achilles tendon lengthening, tendon transfer);
2. osteotomy (e.g. metatarsal, midfoot or calcaneal);
3. bone-stabilising procedures (e.g. triple arthrodesis).
Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death.
Treatment is usually with some combination of the Ponseti or French methods. The Ponseti method includes the following: casting together with manipulation, cutting the Achilles tendon, and bracing. The Ponseti method has been found to be effective in correcting the problem in those under the age of two. The French method involves realignment and tapping of the foot is often effective but requires a lot of effort by caregivers. Another technique known as Kite does not appear as good. In about 20% of cases further surgery is required.
This not known with certainty but is estimated to be about one per million. It appears to be more common in females than males.
Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body. Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion. Routine treatment for patients with renal disease and seizures may also be necessary. Speech therapy and special education in the later development may also be used as management.