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. 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.
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.
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.
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
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.
Achondroplasia Treatment: Why Choose Medical City
- Because 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.
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
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
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:
- 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.
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:
Arlington, Dallas, Flower Mound, Frisco, and McKinney.