This rare disorder resembles the Bardet-Biedl syndromes except for the presence of iris abnormalities. The iris is the ‘colored’ part of the eye surrounding the pupil.
The major features of Biemond Syndrome II are mental impairment, short stature, obesity, extra fingers and toes, abnormal pigmentation of the retina, and incomplete development of the external genitalia. The eyes are often small. The facial appearance is unusual with a flat, small nose, high forehead, flat bridge of the nose and a downturned mouth. In addition, the iris may be incompletely formed so that the pupil resembles a keyhole instead of being round. General development is delayed and IQ is variably low, in the range of 60.
The mode of inheritance is unknown but familial cases have been reported. Nothing is known about the nature of a causative gene.
This is a difficult condition to diagnose, especially since it resembles Bardet-Biedl syndromes. The presence of small eyes and an abnormal pupil can be helpful. Reports do not mention kidney disease which can shorten the life of patients with Bardet-Biedle. Nothing is known about the prognosis.