The symptoms of Fanconi’s Anemia vary a great deal. Some of the earliest markers of FA are the physical abnormalities that manifest in early childhood. 60% of children born with Fanconi’s Anemia display one or more of the following physical abnormalities.
- Fingers – Fingers or thumbs that are misshaped or having extra fingers or thumbs
- Arms – A missing radius (forearm bone) or a radius that is not completely formed
- Skeletal – Various abnormalities of the spine, hips or ribs
- Height – Short Stature
- Weight – Unusually low birth weight
- Head – Underdeveloped or small head
- Eyes – Unusually small eyes, eyes that are crossed or spaced too far apart
- Skin – Abnormalities in skin pigmentation called “café au lait spots”
- Heart – Defects in the tissues that separate the chambers of the heart
- Organs – Underdeveloped reproductive organs, malformed kidneys, and problems with the gastrointestinal system.
Symptoms related to blood production generally begin to appear around the age of six. As the anemia progress patients may develop symptoms that include:
- Fatigue/Tiredness or increased need for sleep
- Dizziness or lightheadedness
- Difficulty breathing
- Cardiac Symptoms
- Bruising easily or excessive bruising
- Bleeding of the gums, nose or mucous membranes.
- Frequent infections
The majority of patients with Fanconi’s Anemia will eventually develop bone marrow failure. Bone marrow is the substance in the bones that produces blood cells. When the bone marrow fails it can no longer produce enough fully developed blood cells to support the body. Conditions related to bone marrow failure include:
- Anemia – Low red blood cells
- Leukopenia – Low white blood cells
- Neutropenia – Low neutrophils cells (a type of white blood cell)
- Thrombocytopenia – Low platelets
Patients who survive to adulthood are at extremely high risk of developing gastrointestinal or gynecological cancers or cancer of the head and neck even if the disease did not manifest symptoms earlier in life.