Syndromes > A

Acrocephalosyndactyly Syndromes

"Group of diseases characterized by craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting primarily of brachydactyly, syndactyly, and polysyndactyly. A number of different subtypes exist but considerable phenotypic overlap occurs, so investigators now consider many of these syndromes to represent variants of the same disease. The classification into subtypes in the literature is conflicting. Furthermore, the classification of acrocephalosyndactyly versus acrocephalopolysyndactyly is regarded by many as a pseudodistinction.Characterized by agenesis or premature closure of the cranial sutures, midface hypoplasia, and symmetrical syndactyly of the hands and feet involving at least the second, third, and fourth digits. An extensive midline calvarial defect extends from the gabella to the posterior fontanelle. Partial cervical spine fusion is common and almost always involves C5-6. Numerous facial anomalies are seen. Heart defects may be associated.Craniofacial dysostosis syndrome with skull deformities similar to Apert syndrome but absent syndactyly. Characteristic features include exophthalmos, hypertelorism, beaked nose, maxillary hypoplasia, and micrognathia.Form of acrocephalosyndactyly characterized by variable craniosynostosis, dysmorphic facies, and minimal syndactyly of hands and feet.Sagittal craniostenosis associated with broad thumbs and toes (mostly second toe), variable maxillary retrusion, and partial soft..."