Dysmorphic Syndromes with Anomalies of the Skull and Extremities

Malformation syndromes that associate anomalies of the skull with those of the hands and/or feet belong to this group. Cranial anomalies are characterized by craniosynostosis that can affect one or more sutures. The alterations of the acromelic structures are characterized by syndactyly. When syndactyly is also associated with polydactyly it is called acrocephalopolysyndactyly while if polydactyly is absent they are called acrocephalosyndactyly. The most important of the first group are these syndromes: Carpenter-type acrocephalopolysyndactyly Noack-type acrocephalopolysyndactyly Sakati-type acrocephalopolysyndactyly The second group includes these syndromes: Apert Crouzon-Apert acrocephalosyndactyly Hermann-Opitz-type acrocephalosyndactyly Pfeiffer-type acrocephalosyndactyly Saethre-Chotzen-type acrocephalosyndactyly Summitt-type acrocephalosyndactyly Greig cephalopolysyndactyly Baller-Gerold syndrome Jackson-Weiss syndrome Ultrasound diagnosis is difficult and, when it is suspected, carrying out a genetic study allows the recognition and risk of recurrence.