Achondroplasia: A Form of Dwarfism

Acondroplasia is a rare genetic disorder characterized by short stature.

Acondroplasia features include disproportionate stature. This basically means that the arms and legs are relatively small when compared to the torso (body). The size disadvantage acondroplasia patients have is more observable in the upper legs and arms (proximal).

Additional signs include a prominent forehead (frontal bone), a prominent jaw, and a flat or depressed region between the eyes. On occasion, there is overcrowding of teeth, and the upper and lower dentition have bad alignment. The disease occurs in all races with equal incidence in women and men. Achondroplasia attacks one in 25,000 to one in 40,000 people.

The lower extremities of a patient with achondroplasia almost always turns bowed, and occasionally the elbow joint can’t be straightened out completely. The arms are short and stumpy and the feet can be small, flat and wide.

Causes of Achondroplasia

A chemical modification within a single gene results in achondroplasia. It does not arise from anything the parents have practiced during or prior to childbirth. Achondroplasia starts from an autosomal dominate condition. What this means is a new chromosomal mutation or genetic alteration began to take place at the time of conception.

The disease may also be communicated from one generation to the next; 9 out of 10 babies born with this illness have average-sized mothers and fathers. If one adult has the disease, there is a fifty percent probability their baby will inherit a copy of the gene. If the mother and father both have the disease there is a twenty-five percent chance the baby will have a dominant gene factor and a seventy-five percent possibility of a single achondroplasia gene. This gene is referred to as FGFR3 (fibroblast growth factor).

Other Illnesses Related to Achondroplasia

Babies with this disease have an inclination towards middle-ear infections. This may occur until 5 or 6 years of life, and it may be owing to abnormal draining from the “pipe” that leads from the middle part of the ear to the throat (pharynx). Respiratory troubles can happen in babies and children, due to constricted nasal openings.

An individual with achondroplasia will have the same life expectancy as an individual without the disease. Hydrocephalus (water in the central nervous system) can also occur in certain instances of achondroplasia.

Kids with achondroplasia may successfully reach motor milestones of growth, but differently and more gradually than youngsters without the disease. For example the baby with achondroplasia might take much longer to sit up than a baby who does not have the disease – but there could always be exceptions.

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