<unk>  is characterized by bone marrow<unk> ilure, AML, solid tumors, and developmental abnormalities. Classic features include abnormal thumbs, absent radii, short stature, skin hyperpigmentation, including café au lait spots, abnormal<unk> cial features (triangular<unk> ce, microcephaly), abnormal kidneys, and decreased fertility. Many<unk>  patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. About 80% of<unk>  will develop bone marrow<unk> ilure by age 20. The first sign of a hematologic problem is usually petechiae and bruises, with later onset of pale appearance, feeling tired, and infections. Because macrocytosis usually precedes a low platelet count, patients with typical congenital anomalies associated with<unk>  should be evaluated for an elevated red blood cell mean corpuscular volume.
Fanconi anemia
Diamond–Blackfan anemia
XMEN disease
Beta thalassemia
Delta-beta thalassemia
Hemoglobin Lepore syndrome
Sick cell syndrome
Hereditary spherocytosis