= autosomal recessive disease with severe hypoplastic anemia + skin pigmentation + skeletal and urogenital anomalies

• skin pigmentation (melanin deposits) in 74% (trunk, axilla, groin, neck); microphthalmia (20%)
• anemia onset between 17 months and 22 years of age
• bleeding tendency (pancytopenia); hypogonadism (40%)
• anomalies of radial component of upper extremity (strongly suggestive):
  • absent / hypoplastic / supernumerary thumb
  • hypoplastic / absent radius
  • absent / hypoplastic navicular / greater multangular bone
• slight / moderate dwarfism
• minimal microcephaly
• renal anomalies (30%): renal aplasia, ectopia, horseshoe kidney

Prognosis: fatal within 5 years after onset of anemia; patient's family shows high incidence of leukemia