Disease Information for Fabrys disease/Angiokeratatosis (trihexose ceramide): Clinical Manifestations

Signs & Symptoms
Cardiomegaly/Heart dilatation
High blood pressure child
High blood pressure/sign
Vasospasm of extremities/Signs
Angiokeratoma on thighs,scrotum, low abdomen
Bathing-suit skin area rash/lesions
Burning/stinging skin sensations/diffuse
Buttock area rash
Decreased sweating/Absent sweating
Diascopy/vascular blanches
Distribution/umbilicus waist area lesions
Facial erythema
Facial flushing/Beet red
Finger wrinkling/hot water challenge/decreased
Lower trunk lesions/skin
Mosquito bites/don't itch
Multiple angiokeratoses
Petechiae in small clusters
Rash Periungua/Perioral/Inguinal/Buttocks
Skin lesions
Subcutaneous nodules
Scrotal macules/spots
Abdominal pain/Improves fasting
Acute abdomen with no signs
Diffuse Abdominal Pain
Postprandial bloating/fullness
Punctate dark blue spots/periumbilical area
Recurrent Abdominal Pain
Weight loss in Children
Acroparesthesias Acral Paresthesias
Finger Pain
Pain in Extremities/Melalgias
Painful hands and feet
Arm pain/stinger type (epicritic/trauma)
Autonomic instability/Variable BP/HR
Burning feet
Burning hands worse with exercise/heat
Moro Reflex unilateral Abnormal
Neuropathic Epicritic Pain
Numbness/distal fingers and toes
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Symmetric Polyneuropathy
Uhthoff phenomenon Heat-trigger Weakness
Apparently well Silent disorder possible
Constitutional symptoms
Fever Febrile Possible
Fever, high
Fever, intermittant/recurrent
Flu-Like Syndrome
Heat intolerance/Warm all the time
High body temperature
Multisystem disease/signs
Weight Loss
Corneal opacity
Propeller-like lens opacity/sign
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Painful peripheral neuropathy Boys Recurrent
Presentation/Congenital Syndromes Renal failure
Presentation/Juvenile Cataract
Disease Progression
Course/Attacks Episodic Spells
Course/Chronic disease crisis/flare/attacks
Course/Chronic disorder
Course/Chronic only
Course/Life-span decreased
Course/Recurrent illness pattern
Prognosis/Death about age 50 avg