Benjamin syndrome

Benjamin syndrome (also Benjamin anemia) is a very rare congenital disorder with generalized manifestations. The exact cause is unknown; it is presumed to be due to a congenital genetic mutation. The syndrome is characterized by hypochromic anemia (typical of iron deficiency), intellectual disability, and variable craniofacial anomalies.

Prevention and Treatment

Prevention of this congenital disorder is not known, and the same applies to treatment of the syndrome itself. The only available approach is symptomatic management of the manifestations of the disease—such as surgical correction of deformities, treatment of anemia, dental caries, etc. Intellectual disability requires specialized educational care and early intervention.

• short stature, delayed growth
• reduced intellectual functioning
• varying degrees of intellectual disability
• anemia predominates in the blood count (anemia) – shortness of breath on exertion, pallor of mucous membranes, fatigue, etc.
• insufficient development of bones and teeth during growth; dental caries occur more frequently
• multiple deformities of the skull, face, and limbs – megalocephaly (abnormally large skull), anomalies of the external ear and auricle, micromelia – small/short limbs, bone deformities
• hypogonadism – reduced function of the gonads