SYMPTOMS
Most young inherited bone marrow failure patients are diagnosed by age 8-10 through a comprehensive medical history, medical exam, blood tests, and a bone marrow examination. They often exhibit one or more of the following physical traits:

Short stature Abnormal thumbs or abnormalities in the bones between the elbow and wrist Kidney and bladder malformations Skin discoloration (such as café au lait spots or ash leaf spots) Small head and eyes Low birth weight Gastrointestinal malformations Small reproductive organs in males Heart defects
The main symptom of bone marrow failure is low blood counts for some or all blood cell types (including red blood cells, white blood cells and platelets). The signs of bone marrow failure vary depending on which blood cells are most affected.

Too few red blood cells cause symptoms of anemia which include the following: Weakness and fatigue Pale skin Shortness of breath Throbbing headaches
Insufficient white cells make the body vulnerable to infection and may be associated with these symptoms: Fevers Serious infections, including blood poisoning Abscesses in the skin and internal organs
Platelets are responsible for clotting the blood; so diminished platelet counts can lead to the following:
Bruising with or without trauma Excessive bleeding with or without trauma Nosebleeds and gum bleeding Strokes