Iniencephalus is a rare and severe congenital malformation characterized by the abnormal development of the fetal brain and spinal column. This condition is typically evident at birth and is associated with significant physical deformities and neurological deficits.
The term "iniencephalus" originates from the Latin words "iniens," meaning "falling upon," and "encephalus," pertaining to the brain. It accurately describes the distinctive feature of this condition, which is the backward bending or retroflexion of the head onto the spine. This abnormal position of the head is due to the failure of normal closure of the vertebral arches of the cervical spine during embryonic development.
Individuals with iniencephalus often exhibit various malformations, including facial abnormalities such as a fixed retroflexed head posture, a short neck, and a small underdeveloped chin. Additionally, the lower cervical and upper thoracic spine may be malformed, resulting in excessive curvature and limited movement.
Neurological deficits associated with iniencephalus can be severe and can manifest as intellectual disability, developmental delays, muscle weakness, and problems with coordination. Moreover, individuals may also have impaired functioning of various organs, such as the heart, lungs, and digestive system.
Due to the complexity and severity of iniencephalus, management and treatment options are limited. Medical interventions may focus on providing supportive care and addressing associated health issues. However, the prognosis for individuals with iniencephalus is typically poor, with high rates of mortality or severe disability.
