Dysmorphic Syndromes with Anomalies of the Oral Cavity and Extremities

Abstract

It is a group of complex dysmorphisms in which the prevalent symptom is constituted by anomalies of the oral cavity and the jaw associated with reductive anomalies of the limbs. There are several syndromes that belong to this association. The main ones are as follows: In this group of diseases, some syndromes can be recognized relatively easily due to the presence of large reductive defects in the limbs and others are much more difficult to suspect. The take-home message, however, is always the same: when an anomaly is observed, it is necessary to request genetic counseling and the study of the molecular karyotype, always informing the pregnant woman that for many syndromes such as some orofaciodigital, the mutated is still not known.

The main syndromes belonging to this group are Weyers acro-facial dysostosis, orocraniodigital syndrome, Catel-Manzke syndrome, Rosselli-Gulienetti syndrome, Weissenbacher-Zweymüller syndrome, ECP or EEC syndrome, orofaciodigital syndrome 1, orofaciodigital syndrome 2, orofaciodigital syndrome 3 and others, otopalatodigital syndrome spectrum disorder, and oromandibular-limb hypogenesis syndrome.