A familial syndrome consisting of pancytopenia associated with short stature, small skull, characteristic facies, hypogonadism, patchy melanotic pigmentation of the skin, as well as non-specific chromosomal changes. Refractory anemia and haemorrhages develop in childhood and there is increased incidence of leukemia Other symptoms include squint, nystagmus, deformities of the ears, deafness, anomalies of long bones, congenital dislocation of the hip, absent radius, abnormal or absent thumbs, and mental retardation. Transmittance is believed to be autosomal recessive. More common in males, with high incidence in siblings.
In 1927 Fanconi reported a family in which three brothers had died in childhood from a condition which resembled pernicious anaemia. He observed that these children had slight stature, hypogonadism and skin pigmentation. In subsequent reports defects of the thumb and radius were recognized as additional but variable syndromic components.
- G. Fanconi:
Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution).
Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
- Die Familiäre Panmyelopathie.
Schweizerische medizinische Wochenschrift, Basel, 1964, 94: 1309-1318.
- Familial constitution panmyelopcytopathy. Fanconi’s anemia.
Seminars in Hematology, New York, 1966, 4: 233-240.