There is a partial deletion of the long arm of the Eighteenth Chromosome.
Basically it is a tiny piece of information left out of Joshua's instruction manual. Without this information his body doesn't know quite how to function in the perfect way it was originally designed for.
The deletion is nearly always different for different people, so the prognosis is widely varied. Some are severely affected and some only mildly.
All are special.
Hypotonia (low muscle tone)
Microcephaly (small head)
High palate
Low set ears
Short stature
Impaired vision (short sighted)
Simian crease (one line on palm instead of 2)
Eczema (wrists and chin mostly)
Absent left pulminary artery (this one has them stumped!)
Odema (puffiness)
Sacral dimple (dimple between buttocks)
Tiny hands and feet (like the size of a 5-6 month old)
Inability to chew
Aspirates food/fluid
Ear/ Urinary tract infections
High temperatures/low temperatures
Grommets (tubes) are out now.
It may not be related to 18q- but Joshua also has hypothyroidism and insulin dependant diabetes.
He is also allergic to mosquito bites (in a big way)
