DNNMasters SEO URL Provider is running in evaluation mode. Please purchase license on www.dnnmasters.com

 

"Laughter and fun is the best medicine."

Diana Mossop

Achondroplasia

Definition

Achondroplasia is a kind of autosomal disorder of the dominant genes which commonly causes dwarfism. Achondroplastic dwarfs are short in stature and their average height when they reach adulthood is at 123 centimeters (about 4 feet and 0.6 inches) for females and 131 centimeters (about 4 feet and 3.8 inches) for males.

Prevalence

The prevalence of the disorder is approximately 1 in every 25,000.

Diagnosis

This disease is detectable even before birth with the use of prenatal ultrasonography. A test of the DNA could be done before birth to diagnose homozygosity (2 copies of mutated genes are inherited). Homozygosity is a condition which is deadly because it can lead to stillbirths. Other characteristics include sluggish motor movements and hypotonia (or having low muscle tones). When hypotonia occurs, the patient is unable to walk until the 24th until the 36th months. Obesity is also linked to this condition. Otitis media (mid ear infections) is also common among children (this happens because of the malformation of the skull). Some cases of otitis media need to be surgically corrected. Again, due to skull malformations, the teeth can become overcrowded and, often, malocclusion follows. This makes keeping the mouth hygienic very difficult.

Causes

Achondroplasia is caused by a mutation (autosomal dominant) in the FGFR3 or fibroblast growth factor receptor gene. This mutation causes defects on the formation of cartilages. FGFR3 generally has a harmful effect on the growth of bones. In this condition, the mutated type of the receptor is active which would lead to acutely short bones.

Characteristics and Features

Achondroplasia has the following clinical features: shortened proximal limbs (also called rhizomelic shortening); shortened toes and fingers; a short stature that is non-proportional; big head with a forehead that appears prominent; nasal bridge that appears flat and a minute midface; convex curvature (or spinal kyphosis) or concave curvature (or lordosis); valgus (the more common term is knock knee) and varus (also called bowleg) defects; recurrent ear infections because of the blockages of the Eustachian tube; obstructive or central sleep apnea; hydrocephalus or hypoplasia of the middle portion of the face.

Testimonials

We have a growing number of testimonials from patients who want to spread the word about Phytobiophysics.

I would like to thank you for all the help that you have given me over the last 18 months. Although I was aware of how much you have helped other members of my family for various ailments, I confess that I remained sceptical — to …

As you are aware, my son, who is six years old, was a perfectly normal baby, until he had his MMR vaccine. After this, he was slightly unwell, I then noticed almost immediately that he had no eye contact with me or anyone else, an…

Dear Diana I really thank you for the little blue pills that you have prescribed for me. I want to tell everyone how important the Pharma Nord Prelox is. On the silver box it says ‘a patented male sexual pleasure enhancer’ and t…

When I first bought my 8 year old daughter to your clinic, she suffered with asthma and eczema. She frequently used Ventolin, Becotide and Cortisone. She started to develop quite a thick growth of unsightly black hairs on her legs…

I am writing to you regarding D??? progress that she has made since coming to see you in November. As you are aware her fits and seizures have been very bad to the point of not knowing what to do other than have her heavily sed…

I have suffered with considerable pains with my gall bladder for a period of approximately thirty years. A friend recommended you to me and, despite some misgivings, I made an appointment. You found that I had an allergy and …

blog comments powered by Disqus
It is believed by many professionals worldwide that the colours of the rainbow have a direct relationship to the human body and health.