ACHONDROPLASIA
Achondroplasia, a form of dwarfism, is caused by a mutated gene that does not allow the long bones in a child’s body to grow. We specialize in treating children and adults with this medical condition.
Achondroplasia
Achondroplasia is a medical term that means “failure or lack of cartilage production.” Basically, this bone development condition prohibits cartilage from converting to a bone in the elongated bones of the arms and legs. Although the precise rate of Achondroplasia in the world’s population is unknown, estimates range from one in 15,000 to one in 26,000 births. However, to provide a broader perspective, it’s important to note that some studies suggest a wider prevalence range of about 1 in 15,000 to 1 in 40,000 individuals born with this condition.
This range accounts for variations in reporting and diagnosis across different regions and demographics. Understanding these numbers helps paint a clearer picture of how many people are affected globally, acknowledging both the challenges in data collection and the natural diversity in human genetics.
Doctors often recognize or suspect this medical condition during birth when seeing a newborn with a very large head.
What Causes Achondroplasia in a Child?
Achondroplasia is a hereditary disorder. It is a disease that is passed down in families, and about 80% of persons with this disease have a novel gene mutation. Advanced paternal age becomes a risk factor and this suggests that only one parent with a mutated gene can cause the condition. Also, children with this condition usually have both parents of normal height. Having an achondroplasia parent raises the likelihood of being born with the disorder. However, most kids born with the syndrome have no family history of it.
A mutation in the fibroblast growth factor receptor-3 (FGFR-3) gene causes achondroplasia. More than 97 percent of all documented instances of achondroplasia are caused by mutations that alter the amino acid glycine to arginine at position 380 of the FGFR-3 protein.
In general, the FGFR-3 protein works as a “brake” for endochondral bone growth (the type of bone formation that occurs at the growth plates of the long bones). This common G380R mutation improves the capacity of the FGFR-3 protein to decrease bone formation, resulting in achondroplasia. This sort of mutation is known as a “gain-of-function” mutation since it is connected with an enhancement inability.
QUESTIONS AND ANSWERS
What is Achondroplasia?
Achondroplasia is a rare genetic condition that causes abnormal bone growth, particularly in the long bones of the arms and legs. It is the most common form of dwarfism, and individuals with achondroplasia typically have short stature with disproportionately short arms and legs compared to the trunk.
what are the Symptoms of Achondroplasia?
The main symptoms of achondroplasia include short stature, a prominent forehead, a flattened bridge of the nose, and shortened fingers and toes. People with achondroplasia may also have a characteristic curvature of the spine (lordosis) and limited range of motion in the elbows and hips. While intelligence is not affected by the condition, some individuals may experience certain health issues like sleep apnea or spinal compression due to the structural abnormalities.
What are the Treatment Options for Achondroplasia?
Currently, there is no cure for achondroplasia, as it is a genetic condition. Treatment mainly focuses on managing the associated complications and improving the quality of life. Regular medical check-ups are essential to monitor growth and address any potential health issues that may arise. Physical therapy can be beneficial for promoting mobility and strength. In some cases, surgical interventions may be necessary to address complications like spinal stenosis or spinal curvature.
Comprehensive Management Strategies
Management of achondroplasia involves a multifaceted approach to tackle various potential complications:
- Weight Management: Encouraging healthy eating habits is crucial to prevent obesity, which can exacerbate complications.
- Surgical Interventions: Procedures such as the insertion of a ventriculoperitoneal shunt can decrease fluid pressure on the brain. Surgeries may also include the removal of adenoids and tonsils.
- Growth Hormones: These may be prescribed to aid in increasing height.
- Respiratory Support: The use of a continuous positive airway pressure (CPAP) nasal mask can effectively manage apnea.
- Ear Health: Ear tubes or antibiotics can help prevent ear infections, a common issue in individuals with achondroplasia.
- Social Support: Providing support for socialization is essential to enhance the quality of life.
Ongoing Research
Much research is being conducted on medications that might help increase height by a few inches, offering hope for future advancements in treatment. This evolving research underscores the importance of staying informed about new developments in the management of achondroplasia.
Kyphosis is more common in kids and adolescents
“Postural Kyphosis is a benign condition, but one that needs attention before the curve progresses. Poor posture can lead to this and observed if a child sits slumped forward. A lot of children today who play video games or electronics often sit this way. Thankfully, we can correct this with exercises and by correcting the posture of the child.” ~ Shyam Kishan, MD
Understanding the Difference Between Achondroplasia and Skeletal Dysplasia
Skeletal dysplasia, often referred to as dwarfism, encompasses a diverse group of over 400 conditions that impact the development of bones and cartilage. These conditions vary widely in their effects but are primarily characterized by abnormal bone growth, leading to disproportionate limb sizes or short stature.
Achondroplasia:
Achondroplasia is the most commonly recognized form of skeletal dysplasia. It specifically affects the growth of the long bones in the arms and legs, resulting in shorter limb lengths compared to the torso. This condition is caused by a genetic mutation that influences bone development from early in the fetal stage.
Key Differences:
Scope:
- Skeletal Dysplasia: Covers a wide range of conditions affecting bone growth and cartilage development.
- Achondroplasia: A specific type of skeletal dysplasia, primarily impacting bones in the limbs.
Genetic Mutation:
- Skeletal Dysplasia: May involve various genetic anomalies depending on the specific condition.
- Achondroplasia: Typically results from a specific mutation in the FGFR3 gene.
Physical Manifestations:
- Skeletal Dysplasia: Can cause a multitude of symptoms, including stature differences, joint abnormalities, and potential spine curvature.
- Achondroplasia: Recognizable by disproportionate short stature with shorter limbs, but a relatively normal-sized torso.
Understanding these distinctions helps in identifying the specific needs and challenges associated with each condition, aiding in more personalized medical care and treatment options.
When to Reach Out to Your Healthcare Provider About Achondroplasia
Regular medical checkups are crucial during infancy and childhood to monitor for any symptoms related to achondroplasia. Early intervention can help address potential issues before they become serious.
Key Moments to Contact Your Healthcare Provider:
- Growth and Development Concerns: If your child is not meeting height milestones or if you notice delays in their physical development, such as difficulties with sitting, crawling, or walking, it is essential to consult with your healthcare provider.
- Breathing and Infection Issues: Reach out immediately if your child has respiratory difficulties or experiences frequent ear infections, as these can be associated with achondroplasia.
- Pain and Mobility Challenges: Seek medical advice if your child complains of back or leg pain, which could be indicative of underlying issues needing attention.
- Weight Management: If there are concerns about your child’s weight, particularly the risk of obesity, a healthcare professional can offer guidance and management strategies to support healthy development.
Staying proactive by consulting with healthcare providers at these critical times can help ensure your child’s health and well-being.
Understanding Life Expectancy for Individuals with Achondroplasia
People with achondroplasia typically enjoy a normal lifespan comparable to the general population. This genetic condition, while affecting bone growth, does not directly impact overall life duration. Moreover, individuals with achondroplasia often have typical cognitive abilities.
Managing Health Complications
Although potential health complications can arise, such as sleep apnea or spinal stenosis, early detection and management of symptoms play a crucial role in maintaining health. Regular medical check-ups and tailored care strategies are essential in minimizing risks and enhancing quality of life.
Achondroplasia presents several medical challenges that require specific management strategies:
- Hydrocephalus: If symptoms like accelerated head growth or vision changes occur, a referral to a neurosurgeon is necessary. Brain imaging like CT or MRI in infants helps identify hydrocephalus.
- Craniocervical Junction Constriction: Assessment by a medical professional is crucial to determine the need for suboccipital decompression. Urgent referral is needed if symptomatic compression is identified.
- Obstructive Sleep Apnea: Management options include weight reduction, adenotonsillectomy, positive airway pressure, or in rare cases, tracheostomy.
- Middle Ear Dysfunction: Ear tubes may be required until about age seven or eight to manage infections and prevent hearing loss.
- Short Stature: Growth hormone treatments may initially boost growth, though effects diminish over time with limited lasting benefits.
- Obesity: Preventive measures should start early, using specific weight-by-height grids for monitoring.
- Varus Deformity: Symptomatic bowing of the legs necessitates an orthopedic referral, though asymptomatic cases typically don’t need surgery.
- Spinal Deformities: Avoid unsupported sitting in early life to prevent kyphosis. Bracing or surgery might be necessary based on severity.
- Spinal Stenosis: Urgent surgical referral is advised if symptoms develop.
- Immunization: Routine vaccinations are crucial.
- Adaptive Needs and Socialization: Home and school environments may need adjustments for short stature. Support groups can assist with social challenges, offering peer support and awareness programs.
Seeing the big picture
By incorporating these detailed strategies, individuals with achondroplasia can better navigate their health journey, ensuring preventive care and timely interventions are prioritized to maintain a high quality of life. Achondroplasia can lead to several specific long-term effects on the body. These may include back and leg pain, breathing difficulties like apnea, and a predisposition to obesity. Additionally, individuals might experience recurring ear infections, a curved spine, and bowed legs. In some cases, excess fluid on the brain (hydrocephalus) and obstructive sleep apnea can occur.
By understanding these potential challenges, individuals and healthcare providers can work together to create proactive health plans. This collaborative approach not only addresses immediate concerns but also helps in preventing more severe complications over time.
Key Points to Consider
- Normal Lifespan: Most individuals with achondroplasia live a life as long as the average person.
- Health Monitoring: Keeping track of health issues and addressing them promptly helps prevent serious complications.
- Support and Guidance: Access to specialized healthcare professionals and support systems can improve overall well-being.
Ultimately, with appropriate care and precautionary measures, individuals with achondroplasia can lead fulfilling, long lives.
Achondroplasia Symptoms
Relatively small body shape (usually less than 4 feet 6 inches); an unusually large head (macrocephaly) with a prominent forehead (frontal bossing) and flat (depressed) nasal bridge; short arms and legs; obvious abdomen and buttocks (due to inward curve of the spine); and short hands with fingers that assume a “trident” or three-pronged position during extension are all distinguishing features of this rare genetic disorder.
Achondroplasia and Infancy
Infants born with achondroplasia often have a “dome-like” (vaulted) cranium and an extremely large forehead. In a tiny percentage of cases, there is an abnormal collection of fluid surrounding the brain (hydrocephalus). Achondroplasia is characterized by a low muscular tone in infancy. The acquisition or development of motor skills may be delayed.
The majority of achondroplasia symptoms are caused by abnormal bone development in the spine, skull, and limbs. The following are examples of classic symptoms:
- Arms and legs that are too short, especially the upper arms and thighs; short, wide hands and feet
- Macrocephaly, frontal bossing, a flattened nasal bridge, and midface hypoplasia are all facial characteristics.
- Recurrent ear infections, which can result in hearing loss;
- Misaligned or overcrowded teeth; and
- Difficulties in stretching or moving the elbows.
- A Trident hand, and bowed legs
- Large head size with a large forehead and flattened bridge of the nose
- Curved lower spine (lordosis or swayback), which may evolve to hunchback (kyphosis)
- A tiny hump near the shoulders that normally disappears as a kid begins walking
- Low muscle tone and sloppy joints
- Small canals in the spinal bones might create breathing difficulties
Achondroplasia symptoms might look similar to those of other medical diseases. Make an appointment for your child to visit one of our pediatric orthopedic doctors for a diagnosis.
Diagnosing Achondroplasia in a Child?
Fetal ultrasound can detect achondroplasia before birth. This test creates photos of the fetus developing in the womb using sound waves and a computer. DNA testing can also be performed before delivery to corroborate the results of prenatal ultrasounds. A physical exam can also determine the problem after birth. You may monitor your child’s development for symptoms.
Once your child is born, certain clinical and radiologic features become key in diagnosing achondroplasia. Common clinical signs include:
- Disproportionate short stature
- Macrocephaly with frontal bossing
- Backward displacement of the midface and depressed nasal bridge
- Shortening of the arms with redundant skin folds on limbs
- Limitation of elbow extension
- Shortened fingers and toes (brachydactyly)
- Trident configuration of the hands
- Bowed legs
- Exaggerated inward curve of the spine (lumbar lordosis)
- Joint laxity
If these features raise suspicion, X-rays can be used to confirm the diagnosis further. In cases of uncertainty, molecular genetic testing can identify the specific FGFR3 gene variant responsible, providing definitive confirmation. This thorough approach ensures an accurate diagnosis, guiding the most appropriate treatment and care.
Strategies to Reduce the Risk of Having a Child with Achondroplasia
Achondroplasia, a genetic condition often caused by new gene mutations, can be unpredictable. While eliminating the risk may not be possible, there are ways to minimize it.
Understand the Genetic Factors
- Genetic Counseling: Meet with a genetic counselor to understand the potential risks and implications better. They can provide valuable information on genetic mutations and inheritance patterns.
- Family History Analysis: Assess your family history for any genetic conditions, which can guide decision-making and offer insight into potential risks.
Preimplantation Genetic Testing
For couples where one or both partners have achondroplasia, preimplantation genetic testing (PGT) can significantly lower the risk of passing it on:
- In Vitro Fertilization (IVF): Embryos are tested for genetic conditions like achondroplasia before implantation, allowing parents to select embryos without the mutation.
- Consult with a Specialist: Working with a fertility specialist who is experienced in genetic testing can provide options tailored to individual needs.
Lifestyle and Ongoing Research
- Stay Informed: Follow advancements in genetic research that may offer new solutions and therapies.
- Healthy Lifestyle: While not directly related to genetic mutations, maintaining a healthy lifestyle can support overall pregnancy health.
In summary, while preventing achondroplasia entirely may not be possible due to its genetic nature, working closely with medical professionals and considering options like PGT can help manage the risk. Always consult with healthcare providers to explore the best course of action for you and your family.
At Medical City Children’s Orthopedic and Spine Specialists, our doctors have successfully performed 5,900 surgeries, so you can rest assured your child is in good hands. In the case that your child requires surgery, our compassionate medical team will sit down and discuss with you all the options available so your family can make an informed decision.
How We Can Help
Major orthopedic complications associated with achondroplasia are due to slower growth in the long bones of humans, especially the bones in the arms and legs. Our experts can assist you in addressing these and other health issues:
- Spinal abnormalities such as lordosis (excessive inward curve in the lower back), kyphosis (mid-back hump), and sideways curvature (scoliosis)
- Leg discomfort or weakness caused by spinal cord or nerve root compression
- Legs bowed
Beyond addressing these medical needs, it’s essential to create an environment that nurtures your child’s independence and emotional well-being. Consider these practical steps:
- Physical Adaptations: Facilitate your child’s independence by reducing physical barriers in your home. Simple adjustments like using a step stool and extending light switches can make a big difference.
- Emotional and Educational Support: Ensure your child has a robust support system at school. Proactive measures can help prevent bullying and promote a positive learning environment.
- Community Engagement: Connect with groups and organizations within the dwarfism community. These networks can provide valuable resources and a sense of belonging for both you and your child.
By combining medical care with these supportive strategies, you can help your child lead a healthy and fulfilling life.
Services for Achondroplasia
Medical City provides comprehensive treatment for babies, children, and teenagers with achondroplasia. Facilities vary by specialist and location but may include:
- Cutting-edge medical imaging to track changes in the bones and joints, as well as organs;
- Convenient technology to help kids communicate, learn, and get around;
- Fetal diagnostic testing in our perinatology and fetal medicine centers to help us diagnose and make a treatment plan for when your baby is born;
- Genetic testing to aid in diagnosis and family planning; and
- Newborn infants care for extremely skilled infant medical care.
- Orthopedic care from one of the world’s most prestigious pediatric programs, specializing in spine surgery and limb realignment.
- Pain management programs just for kids
- Physical therapy and rehabilitation offer physical, occupational, and speech therapy. Therapy
- Plastic surgery for reconstruction your child may require for function and appearance
- Psychology and social work to assist your kid in emotionally coping with their illness
- Care transition when adult care and services are required
Assistance Programs and Resources
In addition to the specialized medical services offered by Medical City, individuals with achondroplasia and their caregivers can access a variety of assistance programs designed to provide financial, educational, and emotional support:
- Emergency Assistance Programs: These programs offer critical support during urgent situations, ensuring that individuals receive the necessary protection and resources.
- Educational Support Initiatives: Tailored programs aim to empower patients and caregivers with the knowledge and skills needed to manage their condition effectively, fostering a better quality of life.
- Caregiver Support Programs: Recognizing the vital role of caregivers, these initiatives provide much-needed respite and support, helping caregivers maintain their well-being while caring for loved ones.
Explore these resources to find the right support for you and your family, ensuring comprehensive care that extends beyond medical treatment.
Achondroplasia Treatment Options
While achondroplasia cannot be reversed, certain symptoms disappear or become reduced through bracing, orthotics, physical therapy, or surgery. We specialize in surgically treating achondroplasia-related brain and spine disorders such as hydrocephalus, kyphosis, spinal stenosis, or an irregular craniocervical junction. Therefore, our therapeutic objective for children will decrease pain and suffering, build confidence, and avoid issues as they grow older.
According to your child’s condition, our pediatric orthopedists may prescribe one or more of the following procedures:
- Drug therapy to address the root cause of impaired bone growth. This drug is an analog of a naturally occurring peptide that targets the process of endochondral ossification, the type of bone formation that is compromised in individuals with achondroplasia.
- Spinal fusion to support the spine
- Spinal decompression to relieve pressure on the spinal cord or nerve roots
- Guided-growth surgery and osteotomy or bone cutting to remedy unequal bone development or improper bone rotation
- Limb-lengthening surgery to increase the length of the legs or arms
Treatment for Achondroplasia
The specialists at Medical City Children’s Orthopedics & Spine Specialists cover all elements of achondroplasia care for children. This covers a variety of programs to assist children and their families with many of the practical factors of living with achondroplasia. Our practice is well-known for its expertise in the diagnosis and treatment of achondroplasia and other skeletal dysplasias. Furthermore, we collaborate to improve children’s mobility, correct deformities, and avoid future issues. If your kid has been diagnosed with achondroplasia, we’re here to relieve your fears, answer your questions, and offer your child a long healthy life.
Why Should You Choose Us for Achondroplasia Diagnosis and Treatment?
Since its beginning, Medical City Children’s Orthopedics & Spine Specialists, with offices in Dallas, Arlington, Flower Mound, Frisco, and McKinney, TX have been known for providing outstanding pediatric orthopedic care. In addition, families visit from all over the world to visit our skeletal dysplasia specialists. Our genetics specialists have the training and expertise to detect even the most unusual instances of skeletal dysplasia. We collaborate to develop a tailored treatment plan once we’ve diagnosed your child’s ailment.
After implementing treatment, our world-renowned pediatric orthopedic experts, Dr. Kishan, Dr. Hostin, or Dr. Wiesman, will closely monitor each patient. Because skeletal dysplasia may grow and change over time, our medical practice has built one of the world’s leading pediatric imaging programs to track and quantify changes in children’s bodies.
Care and Service
Finally, our care navigators organize appointments because most children need to see many doctors and may require multiple treatments. We also assist children with achondroplasia in achieving the maximum potential function and quality of life by providing access to Medical City specialists and support services, such as:
- Clinical testing research possibilities
- Community resources and support services
- We collaborate closely with our colleagues in neurosurgery and genetics, we can help you obtain comprehensive care for your child with achondroplasia — from birth screening and genetic testing through guided growth surgery and brainstem decompression
- Our doctors have extensive experience treating children with achondroplasia from infancy through maturity, using the best treatment for their age and bone maturation
- We want your child as active as possible; thus, we employ minimally invasive treatments wherever feasible and carefully organize the scheduling of surgeries to ensure that your child can enjoy their childhood.
If you have any questions or need to make an appointment, please call us at 214-556-0590
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Footnote:
Call 214-556-0590 to make an appointment.
Comprehensive services for children from birth through adolescence at five convenient locations:
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