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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.

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