General
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.
- malý vzrast, spomalený rast
- znížená inteligencia,
- rôzne stupne mentálnej retardácie
- v krvnom obraze dominuje anémia (chudokrvnosť) – dýchavičnosť pri námahe, bledosť slizníc, únava...
- pri vývoji nedochádza k dostatočnému vývinu kostí a zubov, u chorých sa častejšie objavujú zubné kazy
- početné deformácie lebky, tváre a končatín – megalocefália (abnormálne veľká lebka), anomálie
- vonkajšieho ucha a ušnice, mikromélia – malé/krátke končatiny, deformity kostí
- hypogonadizmus – znížená funkcia pohlavných orgánov
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