Table 1.

Major features of the inherited bone marrow failure syndromes.1

FeatureFanconi anemiaDyskeratosis congenitaDiamond-Blackfan anemiaShwachman-Diamond syndromeSevere congenital neutropenia2Amegakaryocytic thrombocytopeniaThrombocytopenia absent radii
Abbreviations: AR, autosomal recessive; XLR, X-linked recessive; AD, autosomal dominant; MDS, myelodysplastic syndrome; HNSCC, head and neck squamous cell carcinoma; Gyn, gynecological. 
?, data not available or unclear. Cancer means leukemia or solid tumor, probability assuming no other adverse event occurs. 
1Data derived from cases reported in the literature. 
2Rosenberg et al5  
3Age at hematologic diagnosis in most cases, except in SCN, where it is the age of starting treatment with granulocyte colony-stimulating factor (G-CSF). 
4Physical findings are outlined in Table 2. 
5Kaplan-Meier survival analysis, censored at death. 
6Genes are described in Table 3. 
~N Lit Cases >1850 425 825 500 374 100 280 
Male:Female 1.2:1 4:1 1.1:1 1.5:1 1.2 0.8:1 0.7:1 
Age at diagnosis, median (range)3 6.6 (0–49) 15 (0–75) 0.25 (0–64) 1 (0–41) 3 (0–70)2 0.1 (0–11) 0–0.6 
% diagnosed ≥16 y of age2 9 46 1 5 132 0 0 
Physical findings4 Yes Yes Yes Yes No No Yes 
Usual hematology Pancytopenia Pancytopenia Anemia Neutropenia Neutropenia Thrombocytopenia Thrombocytopenia 
Aplastic anemia Yes Yes Rare Yes No Yes No 
Screening test Chromosome breakage Telomere length Adenosine deaminase Pancreatic insufficiency Promyelocyte arrest Absent/abnormal megakaryocytes Absent megakaryocytes 
Leukemia or MDS Yes Yes Yes Yes Yes Yes Yes 
Solid tumors HNSCC, Gyn, brain HNSCC Osteosarcoma No No No No 
Age at cancer, median (range) 15 (0.1–48) 28 (1.5–68) 23 (1.2–44) 18 (2–43) 14 (2–26) 12 (1.6–17) 5.3 (0–67) 
Cumulative probability (%) of cancer by age 40–50 y5 85 35 52 71 55 53 (by age 17) 14 
Projected median survival age5 23 45 39 35 50 16 >70 
% alive or dead ≥16 y of age 27 58 22 22 32 5 16 
Genetics AR, XLR XLR, AD, AR AD AR AD, AR AR AR? 
Genes6 >13 >3 >2 >1? >3 1 ? 
FeatureFanconi anemiaDyskeratosis congenitaDiamond-Blackfan anemiaShwachman-Diamond syndromeSevere congenital neutropenia2Amegakaryocytic thrombocytopeniaThrombocytopenia absent radii
Abbreviations: AR, autosomal recessive; XLR, X-linked recessive; AD, autosomal dominant; MDS, myelodysplastic syndrome; HNSCC, head and neck squamous cell carcinoma; Gyn, gynecological. 
?, data not available or unclear. Cancer means leukemia or solid tumor, probability assuming no other adverse event occurs. 
1Data derived from cases reported in the literature. 
2Rosenberg et al5  
3Age at hematologic diagnosis in most cases, except in SCN, where it is the age of starting treatment with granulocyte colony-stimulating factor (G-CSF). 
4Physical findings are outlined in Table 2. 
5Kaplan-Meier survival analysis, censored at death. 
6Genes are described in Table 3. 
~N Lit Cases >1850 425 825 500 374 100 280 
Male:Female 1.2:1 4:1 1.1:1 1.5:1 1.2 0.8:1 0.7:1 
Age at diagnosis, median (range)3 6.6 (0–49) 15 (0–75) 0.25 (0–64) 1 (0–41) 3 (0–70)2 0.1 (0–11) 0–0.6 
% diagnosed ≥16 y of age2 9 46 1 5 132 0 0 
Physical findings4 Yes Yes Yes Yes No No Yes 
Usual hematology Pancytopenia Pancytopenia Anemia Neutropenia Neutropenia Thrombocytopenia Thrombocytopenia 
Aplastic anemia Yes Yes Rare Yes No Yes No 
Screening test Chromosome breakage Telomere length Adenosine deaminase Pancreatic insufficiency Promyelocyte arrest Absent/abnormal megakaryocytes Absent megakaryocytes 
Leukemia or MDS Yes Yes Yes Yes Yes Yes Yes 
Solid tumors HNSCC, Gyn, brain HNSCC Osteosarcoma No No No No 
Age at cancer, median (range) 15 (0.1–48) 28 (1.5–68) 23 (1.2–44) 18 (2–43) 14 (2–26) 12 (1.6–17) 5.3 (0–67) 
Cumulative probability (%) of cancer by age 40–50 y5 85 35 52 71 55 53 (by age 17) 14 
Projected median survival age5 23 45 39 35 50 16 >70 
% alive or dead ≥16 y of age 27 58 22 22 32 5 16 
Genetics AR, XLR XLR, AD, AR AD AR AD, AR AR AR? 
Genes6 >13 >3 >2 >1? >3 1 ? 
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