Table 2. 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†

This list is not comprehensive. Absence of physical stigmata does not rule out these disorders.

^*Variable.

^†In a majority of patients.