|
Acrocephalosyndactylies represent a polymorphic syndrome consisting of at least one acrocephaly and one syndactyly. The acrocephaly is related to craniosynostosis with an almost complete premature solder of the frontal and sagittal sutures, resulting in a vertically deformed scull with a flat occiput. The syndactyly can involve the fingers and/or toes in a more or less complete manner, at maximum with "mitten hand", and can be accompanied by pre- or post-axial polydactyly. At least six different types of acrocephalosyndactyly have been described. They are classified on the basis of the genetic transmission (autosomal dominant or recessive), of the nature of the member`s anomalies, and mainly, on the basis of the anomalies associated to the both main signs (in particular, the anomalies of the ears, orbits and eyelid). If no mutation is identified, it remains very difficult patients to be assigned to any of the described clinical forms of the syndrome.
|