- a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types [MIM*227650, 227600, 227645, 227646, 600901]); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia.
- a group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.
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