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Cephalic disorders (from Greek κεφαλή 'head') are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.. Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions, nutritional deficiencies, or by environmental exposures during pregnancy, such as medication taken by the ...
The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, [3] though the cause is not identified in most cases. [4] Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms.
The disorder is characterised by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). In addition to agnathia and synotia, other symptoms that may manifest in otocephaly include: [2] Facial/musculoskeletal Small (microglossia) or absent (aglossia) tongue; Small (microstomia) or absent (astomia) mouth
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. [2]
Colpocephaly is a cephalic disorder involving the disproportionate enlargement of the occipital horns of the lateral ventricles and is usually diagnosed early after birth due to seizures. It is a nonspecific finding and is associated with multiple neurological syndromes , including agenesis of the corpus callosum , Chiari malformation ...
Hydranencephaly [3] is a type of cephalic disorder. These disorders are congenital conditions that derive from damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero. These conditions do not have any definitive identifiable cause factor.
A 29-year-old man’s debilitating night terrors were the first sign of rare autoimmune disorder that rapidly progressed, landing him in the intensive care unit in a “catatonic state.”
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. [1] It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere. [2] Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. [3]