Clinical and laboratory features of genetic bone marrow failure disorders
| Disorder . | Major physical features . | Laboratory tests . |
|---|---|---|
| Fanconi anemia | Short stature, skin hyper-/hypo-pigmentation; limb or hand, skeletal, facial dysmorphologies; renal, gonadal, neurocognitive/central nervous system, cardiopulmonary, gastrointestinal anomalies | Chromosomal breakage or cell cycle arrest induced by mitomycin C or diepoxybutane |
| Dyskeratosis congenita or telomere biology disorders | Nail dystrophy, lacey or reticular skin pigmentation, oral leukoplakia, liver cirrhosis, short stature, pulmonary fibrosis, vascular anomalies, hyperhidrosis, and ophthalmologic, hair (early graying, early hair loss) dental, central nervous system, gastrointestinal, facial cardiac, genitourinary anomalies | Telomere lengths less than first percentile |
| GATA2 spectrum disorders | Warts, atypical mycobacterial infections, lymphedema, deafness, pulmonary alveolar proteinosis | Monocytopenia*; low B, T, and natural killer cells*; low immunoglobulin levels* |
| Shwachman-Diamond syndrome | Steatorrhea, thoracic dysplasias, jeune syndrome, metaphyseal dysostosis, short stature | Low serum trypsinogen (age <3 y), low serum pancreatic isoamylase (age ≥3 y) |
| Diamond Blackfan anemia | Thumb anomalies, short stature, cleft lip or palate, Pierre Robin syndrome, facial dysmorphologies, and cardiac and genitourinary anomalies | Elevated erythrocyte adenosine deaminase† |
| Disorder . | Major physical features . | Laboratory tests . |
|---|---|---|
| Fanconi anemia | Short stature, skin hyper-/hypo-pigmentation; limb or hand, skeletal, facial dysmorphologies; renal, gonadal, neurocognitive/central nervous system, cardiopulmonary, gastrointestinal anomalies | Chromosomal breakage or cell cycle arrest induced by mitomycin C or diepoxybutane |
| Dyskeratosis congenita or telomere biology disorders | Nail dystrophy, lacey or reticular skin pigmentation, oral leukoplakia, liver cirrhosis, short stature, pulmonary fibrosis, vascular anomalies, hyperhidrosis, and ophthalmologic, hair (early graying, early hair loss) dental, central nervous system, gastrointestinal, facial cardiac, genitourinary anomalies | Telomere lengths less than first percentile |
| GATA2 spectrum disorders | Warts, atypical mycobacterial infections, lymphedema, deafness, pulmonary alveolar proteinosis | Monocytopenia*; low B, T, and natural killer cells*; low immunoglobulin levels* |
| Shwachman-Diamond syndrome | Steatorrhea, thoracic dysplasias, jeune syndrome, metaphyseal dysostosis, short stature | Low serum trypsinogen (age <3 y), low serum pancreatic isoamylase (age ≥3 y) |
| Diamond Blackfan anemia | Thumb anomalies, short stature, cleft lip or palate, Pierre Robin syndrome, facial dysmorphologies, and cardiac and genitourinary anomalies | Elevated erythrocyte adenosine deaminase† |