Body System Affected |
Symptoms |
Highly Suspicious Sx |
|
General Physical appearance |
Characteristic facial features |
Respiratory, eyes, ears, nose and throat |
Hearing loss |
|
Corneal clouding |
Cardiac |
Cardiac manifestations |
Bones and joints |
Dysostosis multiplex |
GI |
Hepatosplenomegaly |
Neurologic |
Spinal cord compression |
|
Hydrocephalus |
|
Carpal tunnel syndrome |
|
Delayed mental development or |
|
regression in mental development |
Less Suspicious Sx |
|
General Physical appearance |
Short stature |
|
Extensive Mongolian spots |
Respiratory, eyes, ears, nose and throat |
Sleep apnea |
|
Copious nasal discharge |
|
Recurrent Otitis media, EOM or myringotomy |
|
Frequent URI |
Bones and joints |
Joint stiffness or limited ROM |
|
Hand problems |
Gastrointestinal |
Hernia |
Dental |
Abnormally shaped teeth |
|
Dental cysts/abscess |