What is achondroplasia?


Know the basics

What is achondroplasia?

Achondroplasia is a bone growth disorder caused by a rare genetic mutation. This gene mutation causes the majority of disproportionate dwarfism.  Having this condition, the cartilage of the patient cannot change to form the body shape as normally.  People with achondroplasia  is characterized by a short stature, about 131 cm high in males and 124 cm high in females.

Achondroplasia can be inherited from parents to children but majority of cases (about 80%) is caused by a new mutation.

How common is achondroplasia?

Achondroplasia is extremely common. It commonly affects more females than males. It can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Know the symptoms

What are the symptoms of achondroplasia?

The common symptoms of achondroplasia are:

  • Having short stature:
  • In males: about 131 centimeters in height.
  • In females: about 124 centimeters in height.
  • Having short arms and legs with particularly short upper arms and thighs, elbows motion is limited.
  • Having enlarged head (macrocephaly) with alarge forehead.
  • Having short fingers. The hand has a three-pronged appearance because the ring finger and middle finger are diverged.

Other health conditions associated with achondroplasia are:

  • Breathing problems: breathing slows or stops for short periods (apnea);
  • Obesity;
  • Recurrent ear infections;
  • Kyphosis and back pain;
  • Spinalstenosis;

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

You should contact your doctor if you have any of the following:

  • A short stature comparing to average for age and sex;
  • Short arms and legs, in comparison to body height;
  • Short fingers and three-pronged hand;
  • A disproportionate large head and an abnormally large forehead;
  • Apnea, which involves brief periods of slowed breathing or breathing that stops;
  • Hydrocephalus;
  • Difficulty in elbows motion;
  • Having obesity;
  • Experience recurrent ear infections;
  • Kyphosis or lordosis.

Know the causes

What causes achondroplasia?

Achondroplasia is caused by a genetic mutation in the FGFR3 gene that prevent the cartilage convert in order to form the bone during fetal development.

Know the risk factors

What increases my risk for achondroplasia?

There are some risk factors for achondroplasia, such as:

  • Children whose mother and/or father having achondroplasia.
  • Children whose mother and/or father having a mutated FGFR3 gene.
  • Advanced paternal age causing mutations.

Understand the diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is achondroplasia diagnosed?

Achondroplasia can be diagnosed during pregnancy and after your child is born.

  • During pregnancy:
  • Ultrasound imaging can detect characteristics of achondroplasia such as: hydrocephalus, or an abnormally large head.
  • Genetic test can be ordered in case of suspecting achondroplasia by chorionic villus sampling or amniocentesis.
  • After your child is born: The diagnosis of achondroplasia can be performed based on:
  • Typical physical features.
  • X-rays,ultrasound, and other imaging techniques to measure the length of child’s bone.  blood test to find FGFR3 gene.

How is achondroplasia treated?

There are no specific treatment for achondroplasia. When special problems complicate achondroplasia, informing these issues to physicians for having timely intervention. For example:

  • Surgery in case of severe narrowing (stenosis) and compression of the spinal cord.
  • Surgery for treatment of spinal cord in adolescence.
  • Orthopedic procedures to lengthen the limb bones and correct of bowed legs.
  • Surgery (lumbar laminectomy) to treat spinal stenosis (narrowing.
  • Placement of a shunt to drain the excess fluid in case of hydrocephalus
  • Antibiotics and/orear tubes to address Middle ear infections (otitis media).
  • Straighten teeth to avoid dental crowding.
  • Monitor and control their weight in order to control obesity.
  • Treatment with human growth hormone to increase the growth rate of a child’s bones.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage achondroplasia?

The following lifestyles and home remedies might help you cope with achondroplasia:

  • Control obesity.
  • Join a support group.
  • Keep a positive outlook on life by exercising.
  • Remember that achondroplasia only affect the physical look. You intelligent is the same as any men.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

msBahasa Malaysia

Review Date: May 30, 2016 | Last Modified: January 4, 2017

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