Skip to main content

Achondroplasia

Overview
Achondroplasia is a disorder of bone growth characterized by a dwarfism and disproportionate body. Achondroplasia sufferers have a normal breastbone size, but the size of their arms and legs is short. The average height of adult male achondroplasia is 131 cm, while for adult women it is 124 cm. Even though his physical condition is not normal, achondroplasia sufferers have a normal level of intelligence.
Achondroplasia

Physical Characteristics of Achondroplasia
Since being born, babies with achondroplasia can be identified through their physical characteristics, including:
  • There is space between the middle finger and ring finger.
  • Short size of arms, legs and fingers.
  • The head size is bigger, with a prominent forehead.
  • Teeth that are not parallel and close together.
  • Experiencing spinal deformities, can be in the form of lordosis (forward curve) or kyphosis (backward curve).
  • Narrow spinal canal.
  • O-shaped leg.
  • Short and wide soles of the feet.
  • Weakness or weak muscle strength.
There are several health problems that may be experienced by people with achondroplasia, including:
  •  
  • Repeated ear infections, due to narrowing of the ducts in the ear.
  • Limitations in movement, due to a decrease in muscle tone.
  • Spinal stenosis, which is a narrowing of the spinal canal which results in nerve stress in the spinal cord.
  • Hydrocephalus, which is a buildup of fluid in the cavity (ventricle) in the brain.
  • Sleep apnea, which is a condition characterized by the cessation of breathing during sleep.

Cause
The cause of achondroplasia is a genetic mutation. Genetic mutations are permanent changes that occur in the arrangement of DNA that forms genes. In patients with achondroplasia, mutations occur in the FGFR3 gene, which is a gene that produces Fibroblast protein Growth Factor Receptor 3. This protein plays an important role in the ossification process, namely the process of changing cartilage into hard bones. Mutations in the FGFR3 gene cause the protein not to function normally, thus disrupting cartilage changes into bone. This condition causes the bones to grow shorter and have an abnormal shape, especially the bones in the arms and legs.

There are two causes of the FGFR3 gene mutation in patients with achondroplasia, namely:
Mutations that occur spontaneously. About 80% of achondroplasia is caused by gene mutations that are not inherited from their parents. Mutations occur spontaneously, but the trigger is not yet known.
Mutations revealed. About 20% of cases of achondroplasia are inherited from parents. If one parent has achondroplasia, the percentage of children suffering from achondroplasia is 50%. If both parents have achondroplasia condition, the risks that might occur are as follows:
  • 25% chance of being normal.
  • 50% chance of having one defective gene, causing achondroplasia.
  • 25% is likely to inherit two defective genes, causing fatal achondroplasia.
Diagnosis
As a first step, the doctor may conduct a search of the patient's medical history and the patient's family, as well as the overall physical examination. Achondroplasia sufferers can be seen at birth with short and disproportionate limb characteristics. To determine the diagnosis of achondroplasia can also be done during pregnancy, especially for older people who suffer from achondroplasia. Some of the investigations that can be done to detect achondroplasia include:

During pregnancy.
  • To check the condition of the fetus in the womb and detect signs of achondroplasia, such as hydrocephalus. Ultrasound can be done through the mother's abdominal wall (transabdominal) or through the vagina (transvaginal ultrasound).
  • Detection of the mutation of the FGFR3 gene. Detection of gene mutations while still in the womb can be done by taking a sample of amniotic water (amniocentesis) or a sample of placental tissue or placenta, which is called chorionic villus sampling. However, this action risks causing miscarriage.
After the baby has been born.
  • DNA test. DNA testing is done to confirm the diagnosis of achondroplasia. DNA testing is done by taking DNA samples from the blood and then analyzing them in the laboratory. The DNA sample is used to detect possible abnormalities in the FGFR3 gene.
Treatment
Until now, there are no drugs or methods of treatment that can treat achondroplasia. Handling is only intended to treat complications that arise, such as:
Antibiotic. To treat ear infections that may be experienced by patients with achondroplasia.
Anti-inflammatory medication. To treat patients with achondroplasia with joint disorders.
Operation. Surgery can be done to overcome complications that might occur, including:
  • Orthopedic procedure. The procedure is done by an orthopedic doctor to improve the shape of the O leg.
  • Lumbar laminectomy. An operating procedure to treat spinal stenosis.
  • Ventriculoperitoneal shunt. The surgical procedure is performed if achondroplasia sufferers experience hydrocephalus. This procedure is done by inserting a flexible hose (catheter) to drain fluid in the brain cavity into the abdominal cavity.
  • Caesarean section. The birthing procedure is generally passed by women with achondroplasia because they have small pelvic bones. Caesarean section is also performed if the fetus is diagnosed with achondroplasia. This is done to reduce the risk of bleeding due to the fetus's head being too large to be born normally.
Prevention
Prevention measures against achondroplasia have not been known to date. If you are a sufferer or have a family history of achondroplasia, then you can consult a geneticist to find out more about the risk of achondroplasia in a child who will be born. Achondroplasia sufferers can also take preventive measures by avoiding various dangerous activities that are at risk of spinal damage.

Comments

Popular posts from this blog

Cold Urticaria

Overview Cold allergy or in medical terms called cold urticaria is the reaction of the skin to cold which causes itching to appear and the skin becomes reddish in color. The severity of cold allergy symptoms that appear on each person is different. Some people can lose consciousness, experience very low blood pressure, and even the worst can cause death. Ages are the age most often affected by cold allergies, but usually will disappear completely within a few years. Symptoms Usually cold allergy symptoms appear when the skin is exposed to cold water or cold weather (below 4 degrees Celsius). Cold allergies are also more at risk of appearing in conditions that are windy and damp. The following are some cold allergy symptoms that can occur. Hands feel swollen when holding cold objects. Itchy lesions appear on the area of ​​the skin exposed to cold air. The lips and throat feel swollen when eating cold food or drinks. Reddish skin. Allergic reactions are usually most seve

COVID-19 (coronavirus) Quarantine, Self-Isolation and Social Distancing

COVID-19 (coronavirus) quarantine, self-isolation and social distancing Learn the difference between quarantine and self-isolation amid the COVID-19 (coronavirus) pandemic — and why it matters. You've read about people self-quarantining, social distancing, or isolating themselves during the coronavirus disease 2019 (COVID-19) pandemic. You may be confused about the various terms and wonder what you should be doing. These terms describe approaches for limiting the spread of disease during epidemics and pandemics:   Social distancing.  Keeping space between yourself and other people outside your household to prevent the spread of disease. Quarantine.  Separating people and limiting movement of people who have or may have been exposed to the disease to see if they become ill. Isolation.  Separating people who are ill from others to keep the disease from spreading. Social distancing   You're likely practicing social distancing if there's ongoing community spre

What is Monkeypox Outbreak??

Initially, monkey pox disease has symptoms similar to chicken pox, which is watery nodules. As the disease progresses, watery nodules turn into festering and cause lumps in the neck, armpits, or groin due to swollen lymph nodes. Monkey pox is a disease that can spread from person to person, but its main sources are rodents and primates, such as mice, squirrels, and infected monkeys. Monkey pox is a very rare disease, but can affect anyone. This disease was first discovered during an outbreak in Africa in the 1970s. Causes of Monkey Pox Monkeypox disease is caused by the monkeypox virus, which spreads through the patient's saliva splashes, which enter through the eyes, mouth, nose, or sores on the skin. Apart from sprinkling saliva, transmission can also be through contaminated objects, such as patient clothing. However, human-to-human transmission is limited and requires prolonged contact. Transmission of smallpox monkey initially occurred from animals to humans, namely t