Pyle disease
Overview
Pyle disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pyle disease, or a subtype of Pyle disease, affects less than 200,000 people in the US population.
Symptoms
* Asymptomatic * Headache * Vomiting * Irritability * Delayed motor development * Vacant expression * Blindness * Deafness * Paralysis of facial muscles * Joint pain * Large head * Flat nasal bridge * Broad nasal bridge * Widely spaced eyes * Open mouth * Abnormal curvature of the spine * Limited elbow extension * Knock-knee * Abnormal paranasal sinuses * Reduced density in long bones * Flask-shaped metaphyses * Nerve compression at foramina * Splayed long bones
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Pyle disease. This medical information about signs and symptoms for Pyle disease has been gathered from various sources, may not be fully accurate, and may not be the full list of Pyle disease signs or Pyle disease symptoms. Furthermore, signs and symptoms of Pyle disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Pyle disease symptoms.