Clinical Characteristics

Rahman syndrome is characterised by an intellectual disability (most frequently in the moderate range) in association with macrocephaly and a characteristic facial appearance: children frequently have full cheeks and in childhood and older ages there is frequently a strikingly high hairline.

Other probable/possible Rahman syndrome associations include poor dentition, congenital cardiac anomalies and hypothyroidism.

However, clinical data are currently limited with few individuals diagnosed with Rahman syndrome and so robust delineation of the Rahman syndrome-associated phenotype is currently not possible.