Achondroplasia is a syndrome that causes dwarfism through genetical mutation. It does not have any specific treatment as dwarfism cannot be treated medically. However, the alternate syndromes that come up with dwarfism like sleep apnea, ear infections, spinal curvature and others can be treated through medical facilities where you can travel to. You might have to travel down to another city for the treatment of achondroplasia.
If you happen to travel for the treatment of anchondroplasia syndromes, you would have to carefully plan out your travel expenses and the itinerary. You have to decide for the treatment center and hotels to stay for the treatment of achondroplasia related symptoms.
If you already know where you will be going for the treatment of achondroplasia related symptoms, or a consultation or a second opinion then click here to plan your travel. Otherwise, click here to get the information about facilities that specialize in achondroplasia.
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For more information: (links to the section below)
- About Achondroplasia
- Where to go for Achondroplasia?
- How is Achondroplasia diagnosed?
- How is achondroplasia treated?
- Risks associated with Achondroplasia
- Who can go for Achondroplasia treatment?
Achondroplasia, also known as “achondroplasia dwarfism” is a common case of dwarfism. It transpires as a sporadic mutation in about 80% cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder. People with achodroplasia have been known to have an average height of 131 centimeters (4’3 ft.) for males and 123 centimeters (4 ft.) in females. If both parents are achodroplastic and pass on the mutant gene to their child, then the chances of the homozygous child living past only a few months are 1 in 25,000, according to Columbia University Medical Center (CUMC).
Achondroplasia is a form of short-limbed dwarfism. In an achondroplastic person, the cartilage formation is not an issue but it, in fact, converts cartilage into bones (a process called ossification), specifically in arms and legs. Features of achondroplasia tend to be much more severe.
Health problems related to this syndrome can be episodes of slowing or stoppage of breathing (apnea), obesity and recurrent ear infections. People diagnosed with this health condition also develop abnormal front-to-back curvature of the spine and recurrent back pains. A serious complication of achondroplasia is spinal stenosis which is narrowing of the spinal canal that can compress the upper part of the spinal cord. So, a timely therapy is needed for achondroplasia patients.
Where to go for Achondroplasia?
There are many centers around the country that can help to identify and diagnose achondroplasia. You can travel for Cochlear Implant to reach these centers. In these centers, there are professionals that work closely with the patients and their families. They walk together from the start by determining the candidate to the end process, which is mainly patient follow up care.
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Counsel has been provided for the management of children with achondroplasia was outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. Following is the help that the hospitals can offer you for the case of achondroplasia:
- Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia
- Vigilant neurologic examinations, with referral to a pediatric neurologist as needed
- MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression
- Obtaining history for possible sleep apnea, with sleep studies as necessary
- Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present
- Referral to a pediatric orthopedist if bowing of the legs interferes with walking
- Management of frequent middle-ear infections
- Speech evaluation by age two years
How is Achondroplasia diagnosed?
Clinical attributes comprise of megalocephaly, short limbs, prominent forehead, thoracolumbar kyphosis and mid-face hypoplasia. Complications like dental malocclusion, hydrocephalus, and repeated otitis media can be observed. The risk of death in infancy is multiplied due to the likelihood of compression of the spinal cord with or without upper airway obstruction.
Diagnosis during pregnancy
In achondroplasia, the mutated form one receptor is constantly active and thus, leads to several shortened bones. It is preferable that a DNA test is taken up before birth to detect homozygosity, where two copies of the mutant gene are inherited, that leads to stillbirth.Also, another well-defined trait of the syndrome is thoracolumbar gibbus in infancy. A skeletal survey is constructive to verify the diagnosis of achondroplasia.
Diagnosis after your child is born
X-Ray’s and DNA test are powerful sources to confirm the presence of mutated FGFR3 in your child. The vertebral bodies are short and flattened with a relatively large intervertebral disc height and there is a specifically narrow spinal cord. The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand design can be seen if the fingers are fully extended.
How is achondroplasia treated?
There’s no cure or specific treatment for Achondroplasia. If any complications arise, then your doctor will address those issues. For instance, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis.
Some doctors use growth hormones to increase the growth rate of a child’s bones. However, their long-term effects on height haven’t been determined and are thought to be modest at best. Some claim that these growth hormones do not affect people with achondroplasia.
If desired amongst adults suffering from achondroplasia, there is a controversial surgery of limb-lengthening will lengthen the legs and arms of the patient. Also, some people with dwarfism tend to go for treatment with injections of a synthetic hormone that helps to increase height. In many cases, children are given injections, for several years till they reach a certain age in adulthood. This kind of treatment would continue throughout the teen years and early adulthood to ensure that the child reaches adult maturation, like increasing muscle fat or gaining muscles.
For girls with achondroplasia entails estrogen and related hormonal therapy with the intention of onset of puberty amongst girls. Growth hormone supplementation for children does not increase the final adult height. Regular checkups and healthy treatments taken up by a family doctor can help in the improvement of the life of children with achondroplasia.
As there are a range of symptoms and complications, there treatments made for the impediments as they transpire, like treatments for ear infections, spinal stenosis or sleep apnea. Adults with achondroplasia have to be monitored and regularly checked up throughout their life.
There are quite a lot of lifestyle habits that the patients and their families have to adopt for achondroplasia. You need to have a talk with your pediatrician about the home-care cautions that need to be used for a particular patient with dwarfism. Otherwise, following are the few common treatments used for dwarfism:
- Car Seats– Usage of an infant back seat with firm back and neck supports. Continue using a car seat in the rear-facing direction to the highest weight and height possible (generally above the recommended age limit)
- Infant Carriers and Play Equipment– Infant devices such as swings, umbrella strollers, carrying slings, jumper seats and backpack carriers — that don’t support the neck or that curve the back into a C shape
- Monitoring– Regularly keep a check on your child for complications like ear infection or sleep apnea
- Posture– Promote a good posture by providing the tools like a comfortable pillow for lower back and a footstool while your child is seating
- Healthy diet– From the beginning, inculcate healthy eating habits for your child so that he/she doesn’t suffer from any weight loss in the future
- Healthy Activities– Encourage your child in taking up healthy recreational activities like sports, swimming or bicycling, but avoid sports that have a heavy impact on the body of the child
People with achodroplasia have been known to have an average height of 131 centimeters (4’3 ft.) for males and 123 centimeters (4 ft.) in females. If both parents are achodroplastic and pass on the mutant gene to their child, then the chances of the homozygous child living past only a few months is 1 in 25,000, according to Columbia University Medical Center (CUMC).
Risks associated with Achondroplasia
There are many risks associated with Achondroplasia as it is genetically mutant syndrome. Achondroplasia literally means ‘without cartilage formation’, so risks associated with this syndrome are plenty.
- Have difficulty bending down their bones
- Be obese
- Experience recurrent ear infections due to narrow ear passageways
- Develop bowed legs
- Develop an abnormal curvature of the spine called kyphosis or lordosis
- Develop new or more severe spinal stenosis
- Middle ear dysfunction
Who can go for Achondroplasia treatment?
Achondroplasia symptoms can be defined even before a child is born. As there is no specific treatment and only therapies and symptoms to avoid other symptoms, treatment should be initiated at a very young age. For prolonged advantage, it is recommended that therapies be initiated as young as one to six years of age group.
As the life expectancy of achrondoplastic patients can be short, that is why, it is advised treatment be given to young children as soon as the syndrome is diagnosed. Most people, although live longer and have a normal life expectancy but to improve their quality of life, it is suggested that they start their treatment at the earliest. The achondroplastic gene is not hereditarily transferred to the offsprings, so the parents are not at risk. Infants under the age of two suffering from achondroplasia have increased risk of death, so they should be treated at the earliest to increase their life expectancy.
People with Achondroplasia generally have normal intelligence levels. Their symptoms are physical, not mental.
- Disproportionate dwarfism
- Shortening of proximal limbs (rhizomelic shortening)
- Short fingers and toes with trident hands
- Large head with prominent forehead frontal bossing
- Small midface with a flattened nasal bridge
- Spinal kyphosis (convex curvature) or lordosis (concave curvature)
- Varus (bowleg) or valgus(knock knee) deformities
- Have frequent ear infections, sleep apnea and hydrocephalus
At birth, a child with this condition will likely have:
- A short body that is notably below an average human height for the particular age and sex
- undersized arms and legs, in particular the upper arms and thighs, as compared with typical body-mass index
- diminutive fingers where the ring and middle fingers might bend away from each other
- an inexplicably large head weigh against to the body
- a peculiarly large, prominent forehead that stands out
- a weak area of the face amid the forehead and upper jaw.
Health problems an infant may have include:
- diminished muscle tone that causes hindrance in walking and other motor skills
- apnea that supposedly rivets brief periods of slowed breathing or breathing that stops
- a person suffering from achondroplasia, might have water in his/her brain and the condition is called hydrocephalus
- the narrowing of spinal canal compresses the spinal cord in the condition known as spinal stenosis