Acrocephalosyndactyly types. digital anomalies, e.
Acrocephalosyndactyly types Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. g. While there can be some overlap in features, they can be primarily classified into the following major subtypes: type I: Apert syndrome 1 4 days ago · A group of diseases characterized by craniofacial anomalies with dysmorphic facial features mainly resulting from premature craniosynostosis and by hand and foot anomalies most often consisting of brachy-, syn-, and polysyndactyly. Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. craniosynostoses. Type I, synonymous with the term acrocephalosyndactyly, is Apert syndrome (MIM101200). Acrocephalosyndactyly, a defect involving the cranium and the extremities, occurs in Apert, Pfeiffer, Carpenter's, and Saethre-Chotzen syndromes. . 25-2). digital anomalies, e. The craniofacial, neurological, cardiac, pulmonary, visceral, and extremity anomalies are discussed with special emphasis on hand anomalies. Acrocephalosyndactyly; there are 5 types of acrocephalosyndactyly, a condition involving syndactyly and craniosynostosis. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull, [ 16 ] [ 17 ] fusion of Feb 23, 2024 · Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by: calvarial anomalies, e. syndactyly. The characteristic features of Apert syndrome include turribrachycephaly (high steep flat forehead and occiput), mid-face hypoplasia, and orbital hypertelorism (Fig. Pathology. In this review we provide an overview of these major acrocephalosyndactyly syndromes, including the current classification system. frgmmpprshknfecekhvxtvdxvybctisyabyhrdkmkprh