Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agenesis: A New Syndrome

Abstract

A congenital syndrome is suspected when there are more than three minor anomalies which  are variations of normal morphological features that are considered of little or no known medical, surgical, or cosmetic significance.  More than one major anomaly which is an abnormality that has major medical, surgical or cosmetic significance , and one major anomaly with two or more minor anomalies are also suggestive of congenital syndrome.

There are a large number of syndromes associated with various combination of facial dysmorphism,  mental retardation, limb abnormalities, and unilateral renal agenesis.

The aim of this paper is to report the occurrence of a new mental retardation dysmorphic syndrome with the novel occurrence of unique triphalangeal toes abnormalities in association with left renal agenesis and distinctive facial features including hypertelorism and absent naso-frontal angle.