Atelocephalia, pronounced /ˌeɪtəloʊsɛˈfeɪliə/, is a medical term that refers to a group of rare genetic disorders that affect the shape of the head and skull. The complex spelling of this word can be broken down into smaller parts: atelo- meaning incomplete or imperfect, -cephal- referring to the head or skull, and -alia indicating a group of diseases. The phonetic transcription helps to show the correct pronunciation, with emphasis on the first syllable and the long "e" sound in "cephal". Proper spelling and pronunciation of medical terms are essential for clear communication between healthcare providers and patients.
Atelocephalia is a medical term that refers to a rare congenital disorder characterized by the absence or underdevelopment of the brain and skull bones. Derived from the Greek words "atelos" meaning incomplete or imperfect, and "kephale" meaning head, atelocephalia is a severe form of craniofacial malformation that affects the formation of the central nervous system and the overall structure of the head.
Individuals born with atelocephalia often exhibit a range of physical and developmental abnormalities. The most distinct feature is the absence or extreme reduction in the size of the skull, exposing brain tissue that would typically be protected. This deformity often leads to significant intellectual and neurological impairment. Additionally, affected individuals may experience abnormalities in the facial bones, such as microphthalmia (small eyes), cleft lip and palate, or even complete absence of the eyes.
Due to the severity of the condition and the associated health complications, atelocephalia is typically diagnosed early in infancy or even before birth. Unfortunately, there is no cure for this disorder, and treatment options are limited to managing the symptoms and providing supportive care. Factors contributing to the development of atelocephalia are not well understood, and the condition is believed to occur sporadically, without a clear genetic cause.
Given the complexity and rarity of atelocephalia, a multidisciplinary medical team including pediatric neurologists, geneticists, and craniofacial specialists is often involved in the evaluation, diagnosis, and care of individuals affected by this condition.
A monstrosity in which there is incomplete development of the head.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The term "atelocephalia" is a medical term used to describe a condition characterized by the absence or underdevelopment of the brain. The word is derived from the Greek roots "atelo-", meaning "incomplete" or "imperfect", and "cephalos", meaning "head". Therefore, "atelocephalia" can be understood as a condition where the head or brain development is incomplete or imperfect.