Aase-Smith Syndrome

Aase-Smith syndrome is a very rare congenital disorder characterized by a combination of alterations present from birth, which can affect different parts of the body, such as the joints and the formation of blood.

How it is recognized: It may be associated with particular physical features, with limitations in the mobility of some joints, and with other manifestations that vary from one person to another.

Origin: It is considered congenital and uncommon in nature, so its study requires a careful and personalized evaluation.

Which specialist addresses it? The geneticist, frequently in collaboration with the pediatrician, is the one who studies this type of syndrome present from birth. In the face of findings that raise doubts about development, the most sensible thing is to seek a specialized evaluation.