guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
Radial ray deficiency: The underdevelopment or total
loss of the radius bone in the forearm. This condition
often affects the development of the thumb. Some children
with FA are born with no thumbs or thumbs not
normally developed. 5
Radius: The bone on the thumb side of the forearm. 1
Reactive airway disease: The terms “reactive airway
disease” and “asthma” are often used interchangeably;
however, they’re not necessarily the same thing. Reactive
airway disease is a general term that doesn’t indicate
a specific diagnosis. It may be used to describe a
history of coughing, wheezing or shortness of breath of
unknown cause. These signs and symptoms may or may
not be caused by asthma. 9
Recessive: A mutation is said to be recessive if an individual
must inherit two copies of the mutant gene, one
from each parent, to show the mutant trait. Individuals
with one mutant and one normal gene appear normal.
They are called “carriers.” 2
Red blood cell (erythrocyte): Oxygen-carrying cell
in the blood which contains the pigment hemoglobin;
produced in the bone marrow. 2
Refractory: Resistant to treatment or cure. 1
Reticulocyte: An immature red blood cell. 2
Retinoblastoma: A cancer of the retina that generally
affects children under the age of 6. It is most commonly
diagnosed in children aged 1-2 years. 5
Schirmers’ test: This test determines whether the eye
produces enough tears to keep it moist. 5
Scleroderma: A widespread connective tissue disease
that involves changes in the skin, blood vessels,