Total 105 clinical symptoms reported for Fanconi anemia
Abnormal thumb morphology |
An abnormal structure of the first digit of the hand.
Synonyms:Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity |
Very frequent |
Abnormality of blood and blood-forming tissues |
An abnormality of the hematopoietic system.
Synonyms:Abnormality of blood and blood-forming tissues; Abnormality of the hematopoietic system; Hematological abnormality |
Very frequent |
Abnormality of skin pigmentation |
An abnormality of the pigmentation of the skin.
Synonyms:Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly |
Very frequent |
Abnormality of the upper limb |
An abnormality of the arm.
Synonyms:Abnormality of the arm; Abnormality of the upper limb |
Very frequent |
Anemia |
A reduction in erythrocytes volume or hemoglobin concentration.
Synonyms:Anaemia; Low number of red blood cells or hemoglobin |
Very frequent |
Aplasia/Hypoplasia of the radius |
A small/hypoplastic or absent/aplastic radius.
Synonyms:Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia |
Very frequent |
Hypopigmented skin patches |
Synonyms:Patchy loss of skin color |
Very frequent |
Irregular hyperpigmentation |
This information is currently in development.
|
Very frequent |
Leukopenia |
An abnormal decreased number of leukocytes in the blood.
Synonyms:Decreased blood leukocyte number; Low white blood cell count |
Very frequent |
Pyridoxine-responsive sideroblastic anemia |
A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.
|
Very frequent |
Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Thrombocytopenia |
A reduction in the number of circulating thrombocytes.
Synonyms:Low platelet count |
Very frequent |