FANCONI1 in 1927 first described a syndrome in three brothers, aged 3, 5, and 7 years, respectively, who had aplastic anemia, microcephaly, testicular hypoplasia, strabismus, exaggerated deep-tendon reflexes, and a generalized brown melanin-like pigmentation of the skin. This syndrome is characterized by multiple congenital malformations associated with hypoplastic anemia.
The congenital defects most frequently seen are retardation of growth and development; multiple anomalies of the skeleton, especially absence of radius, thumbs, and carpal bones; syndactyly; microcephaly; microphthalmia; ptosis; strabismus; congenital heart disease; hypogenitalism; cryptorchism, and hypospadiasis.
The blood has the characteristics of hypoplastic anemia, with normocytic and normochromic red blood cells. The leucocyte count shows a neutropenia, with leucocytes being usually less than 5,000 per cubic millimeter. The platelets are usually below 50,000 per cubic millimeter. The bone marrow is hypoplastic. The skin often has a dark color with areas of brown pigmentation.
The disease has a progressive course.