What does Pallister-Killian syndrome do?
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone ( hypotonia ) in infancy and early childhood, intellectual disability , distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects .
What are the symptoms of Pallister-Killian syndrome?
Individuals with Pallister-Killian mosaic syndrome typically have low muscle tone at birth (hypotonia), sparse scalp hair, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with …
What syndrome causes wide set eyes?
What is Waardenburg syndrome? Share on Pinterest Those with Waardenburg syndrome may have a broad nasal root, causing the appearance of wide-set eyes. It is common for people with this disorder to have eyes with spots or different colored eyes.
Is Pallister-Killian Syndrome fatal?
Long-term outcomes. Children with Pallister-Killian syndrome will require coordinated, life-long medical care. Some babies born with the disorder also face life-threatening birth defects in infancy and may not survive early childhood.
How common is Pallister-Killian syndrome?
Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder.
Is Pallister Killian Syndrome fatal?
What causes almond eyes?
The symptoms of Hunter-McAlpine syndrome include characteristic facial features such as almond-shaped eyes, drooping lower eyelids ( ptosis ), and a small down-turned mouth. These characteristic facial features cause many children with Hunter-McAlpine syndrome to look like each other.
Why are some people’s eyes so far apart?
Eyes that are spaced wide apart can be an indication of an anatomical feature called orbital hypertelorism which can be a symptom of various syndromes. However if your eyes are a bit hyperteloric there’s no need to worry. In fact if your eyes happen to be a bit farther apart than most you’re in good company.