Friday, 14 March 2025

Achondroplasia

Achondroplasia is perhaps the most recognisable form of dwarfism. These individuals typically have short limbs and enlarged heads. Midface hypoplasia, whilst not present in all individuals, is another distinguishing feature.
 
 
Midface Hypoplasia
 
Midface hypoplasia results in the upper jaw, cheekbones and eye sockets not growing as much as the rest of the face.
    Visually, it can present with an underbite or with large, prominent eyes. The internal differences midface hypoplasia causes are far more important: the Eustachian tubes and the pharynx are shortened, affecting their functions.
    The Eustachian tubes connect the throat and mouth with the middle ear. When this is short, it predisposes the individual to have recurrent upper airway infections. This includes, but isn’t limited to glue ear or a cold, cough, runny nose, and sore throat.
    The pharynx is a muscle that helps people to breathe and to swallow. Difficulty swallowing means difficulty eating and speaking. Trouble breathing can mean heavy, laboured breathing.     This makes exercise difficult, reducing the individual’s health. Listening to anyone talking whilst they sound out of breath is problematic; difficulty controlling the pharynx means it’s difficult to make the right sounds.
    All-in-all, midface hypoplasia can have serious consequences.
 
 
Glue Ear
 
Glue ear is more properly called a ‘middle ear effusion’. This is when fluid builds up in the middle ear.
    It can cause balance issues, earache, infection, hearing loss, and tinnitus. Although it usually passes after four-to-six months, a three-month recovery period is still considered normal.
    The main treatment is to repeat auto-inflation throughout the day. Swallowing whilst holding the nostrils down is a good method, but the medical world has special balloons that do the trick, too.
    As people with achondroplasia have shortened Eustachian tubes, they can have near-constant glue ear. This means near-constant treatment (which is annoying and frustrating). The more something occurs, the more probable serious consequences occur.
 
 
Of course, not everyone with achondroplasia suffers as greatly. As with any condition, there is great variability. But it’s still important to be aware of all the facts so that those with achondroplasia can live a full and enjoyable life.

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