Cephalic disorder: Difference between revisions

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{{short description|Group of congenital brain or skull defects}}
 
{{Infobox medical condition (new)
{{Infobox medical condition
| name            = Cephalic disorder  
| name            = Cephalic disorder
| caption        = A large [[encephalocele]] of a just born alive baby.
| synonyms        =  
|
| field          = [[Neurology]]
| pronounce      =
| symptoms        = [[Developmental delay]], [[intellectual disability]], [[seizures]], [[motor impairment]]
| field          =
| synonyms        = 
| symptoms        =  
| complications  =  
| complications  =  
| onset          =  
| onset          = Congenital
| duration        =  
| duration        = Lifelong
| types          =
| causes          = [[Genetic mutations]], [[environmental factors]]
| causes          =  
| risks          = [[Maternal infection]], [[exposure to toxins]], [[nutritional deficiencies]]
| risks          =  
| diagnosis      = [[Prenatal ultrasound]], [[MRI]], [[CT scan]]
| diagnosis      =  
| differential    = [[Neural tube defect]], [[hydrocephalus]], [[cerebral palsy]]
| differential    =  
| prevention      = [[Folic acid supplementation]], [[avoidance of teratogens]]
| prevention      =  
| treatment      = [[Supportive care]], [[physical therapy]], [[occupational therapy]], [[speech therapy]]
| treatment      =  
| prognosis      = Varies depending on severity
| medication      =
| frequency      = Rare
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
 
{{Short description|Group of congenital conditions affecting the head and brain}}
'''Cephalic disorders''' (from the [[Greek language|Greek]] word ''κεφαλή'', meaning "head") are [[Congenital disorder|congenital]] conditions that stem from damage to, or abnormal development of, the budding [[nervous system]]. Cephalic means "[[head (anatomy)|head]]" or "head end of the body".
{{Use dmy dates|date=October 2023}}
 
'''Cephalic disorders''' are a group of congenital conditions that affect the structure and function of the head and brain. These disorders are the result of abnormal development of the nervous system during embryonic growth. The term "cephalic" is derived from the Greek word "kephalē," meaning "head."
Cephalic disorders are not necessarily caused by a single factor, but may be influenced by [[heredity|hereditary]] or [[genetics|genetic]] conditions, [[nutrition]]al deficiencies, or by environmental exposures during [[pregnancy]], such as [[medication]] taken by the mother, maternal infection, or exposure to [[radiation]]. Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the [[bone]]s of the [[human skull|skull]]) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the [[fetus|fetal]] nervous system.
==Overview==
 
Cephalic disorders encompass a wide range of conditions, each with varying degrees of severity and impact on the individual. These disorders can affect the [[brain]], [[skull]], [[scalp]], and [[face]]. The causes of cephalic disorders are diverse and can include genetic factors, environmental influences, and unknown causes.
The human nervous system develops from a small, specialized plate of [[cell (biology)|cells]] on the surface of the [[embryo]]. Early in development, this plate of cells forms the neural tube, a narrow sheath that closes between the third and fourth weeks of [[pregnancy]] to form the brain and [[spinal cord]] of the embryo. Four main processes are responsible for the development of the nervous system: cell proliferation, the process in which [[nerve]] cells divide to form new generations of cells; cell migration, the process in which nerve cells move from their place of origin to the place where they will remain for life; cell differentiation, the process during which cells acquire individual characteristics; and cell death, a natural process in which cells die.{{citation needed|date=March 2018}}
==Types of Cephalic Disorders==
 
Cephalic disorders can be classified into several types, each with distinct characteristics and implications for health and development.
Damage to the developing nervous system is a major cause of chronic, disabling disorders and, sometimes, death in infants, children, and even adults. The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many [[disability|disabilities]] are mild enough to allow those affected to eventually function independently in society. Others are not. Some infants, children, and adults die, others remain totally disabled, and an even larger population is partially disabled, functioning well below normal capacity throughout life.
===Anencephaly===
 
[[Anencephaly]] is a severe cephalic disorder characterized by the absence of a major portion of the brain, skull, and scalp. It occurs when the upper part of the neural tube fails to close during embryonic development. Infants with anencephaly are usually stillborn or die shortly after birth.
The [[National Institute of Neurological Disorders and Stroke]] (NINDS) is currently "conducting and supporting research on normal and abnormal brain and nervous system development."<ref name="disorders">{{cite web | title=Cephalic Disorders Fact Sheet | work=The National Institute of Neurological Disorders and Stroke (NINDS) | url=http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm | accessdate=2008-07-30 | archive-url=https://web.archive.org/web/20080920160408/http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm# | archive-date=2008-09-20 | url-status=dead }}</ref>
===Microcephaly===
 
[[Microcephaly]] is a condition where a baby's head is significantly smaller than expected, often due to abnormal brain development. It can result from genetic abnormalities, infections during pregnancy, or exposure to harmful substances. Microcephaly can lead to developmental delays and neurological problems.
==Types==
===Hydrocephalus===
===More common cephalic disorders===
[[Hydrocephalus]] is characterized by an accumulation of cerebrospinal fluid within the brain's ventricles, leading to increased pressure inside the skull. This can cause an enlarged head, brain damage, and other complications. Treatment often involves surgical intervention to drain the excess fluid.
The [[ICD|ICD-10]] codes are listed below per disorder.
===Holoprosencephaly===
 
[[Holoprosencephaly]] is a disorder resulting from the failure of the forebrain to divide into two hemispheres. This can lead to facial abnormalities and severe neurological impairments. The severity of holoprosencephaly varies widely among affected individuals.
* [[Anencephaly]] (Q00.0)
===Craniosynostosis===
* [[Colpocephaly]] (Q04.8)
[[Craniosynostosis]] is a condition where one or more of the sutures in a baby's skull close prematurely, affecting the shape of the head and potentially leading to increased intracranial pressure. Surgical intervention is often required to correct the skull shape and prevent complications.
* [[Holoprosencephaly]] (Q04.2)
==Causes==
* [[Ethmocephaly]] (Q04.2)
The causes of cephalic disorders are multifactorial and can include:
* [[Hydranencephaly]] (Q04.3)
* [[Genetic mutations]]
* [[Iniencephaly]] (Q00.2)
* [[Environmental factors]] such as exposure to toxins or infections during pregnancy
* [[Lissencephaly]] (Q04.3)
* [[Nutritional deficiencies]], particularly a lack of [[folic acid]]
* [[Megalencephaly]] (Q04.5)
* Unknown causes, as many cephalic disorders arise without a clear etiology
* [[Microcephaly]] (Q02)
==Diagnosis==
* [[Porencephaly]] (Q04.6)
Cephalic disorders are typically diagnosed through a combination of prenatal imaging techniques, such as [[ultrasound]] and [[MRI]], and postnatal physical examinations. Genetic testing may also be used to identify specific mutations associated with these conditions.
* [[Schizencephaly]] (Q04.6)
==Treatment==
 
Treatment for cephalic disorders varies depending on the specific condition and its severity. Options may include:
===Less common cephalies===
* Surgical interventions to correct structural abnormalities
* [[Acephaly (medicine)|Acephaly]] (Q00.0)
* Medications to manage symptoms and complications
* [[Exencephaly]] (Q00.0)
* Supportive therapies, such as physical and occupational therapy, to aid development
* [[Macrocephaly]] (Q75.3)
==Prognosis==
* [[Micrencephaly]] (Q02)
The prognosis for individuals with cephalic disorders depends on the type and severity of the condition. Some disorders, like anencephaly, are incompatible with life, while others, such as mild forms of craniosynostosis, can be managed effectively with treatment.
* [[Otocephaly]] (Q18.2)
==Related pages==
* [[Craniosynostosis]] (Q75.0)
* [[Congenital disorder]]
**[[Brachycephaly]] (Q75.0)
* [[Neural tube defect]]
**[[Oxycephaly]] (Q75.0)
* [[Developmental disability]]
**[[Plagiocephaly]] (Q67.3
[[Category:Congenital disorders]]
**[[Scaphocephaly]] (Q75.0)
[[Category:Neurological disorders]]
**[[Trigonocephaly]] (Q75.0)
[[Category:Pediatrics]]
*[[Polycephaly]] (Q89.4)
 
==See also==
*[[Cyclopia]]
*[[Encephalocele]]
*[[MOMO syndrome]]
*[[Positional plagiocephaly]]
 
==Notes==
* <cite id="fn1">[[#fn1b|Note 1:]]</cite> https://web.archive.org/web/20051001003618/http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm
 
''Portions of this article were based on the page: https://web.archive.org/web/20080920160408/http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm at the [[National Institute of Neurological Disorders and Stroke]]'s [[public domain resource]].''
==References==
{{reflist}}
 
== External links ==
{{Medical resources
|  ICD10      = Q00-Q04, Q18, Q67, Q75, Q89
|  ICD9        = {{ICD9|740}}-{{ICD9|742}}
}}
 
 
{{DEFAULTSORT:Cephalic Disorder}}
[[Category:Congenital disorders of nervous system]]
 
[[he:מיקרוצפליה]]
[[nl:Anencefalie]]
{{dictionary-stub1}}
{{No image}}

Latest revision as of 04:27, 4 April 2025


Cephalic disorder
Synonyms
Pronounce N/A
Specialty N/A
Symptoms Developmental delay, intellectual disability, seizures, motor impairment
Complications
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations, environmental factors
Risks Maternal infection, exposure to toxins, nutritional deficiencies
Diagnosis Prenatal ultrasound, MRI, CT scan
Differential diagnosis Neural tube defect, hydrocephalus, cerebral palsy
Prevention Folic acid supplementation, avoidance of teratogens
Treatment Supportive care, physical therapy, occupational therapy, speech therapy
Medication N/A
Prognosis Varies depending on severity
Frequency Rare
Deaths N/A


Group of congenital conditions affecting the head and brain


Cephalic disorders are a group of congenital conditions that affect the structure and function of the head and brain. These disorders are the result of abnormal development of the nervous system during embryonic growth. The term "cephalic" is derived from the Greek word "kephalē," meaning "head."

Overview[edit]

Cephalic disorders encompass a wide range of conditions, each with varying degrees of severity and impact on the individual. These disorders can affect the brain, skull, scalp, and face. The causes of cephalic disorders are diverse and can include genetic factors, environmental influences, and unknown causes.

Types of Cephalic Disorders[edit]

Cephalic disorders can be classified into several types, each with distinct characteristics and implications for health and development.

Anencephaly[edit]

Anencephaly is a severe cephalic disorder characterized by the absence of a major portion of the brain, skull, and scalp. It occurs when the upper part of the neural tube fails to close during embryonic development. Infants with anencephaly are usually stillborn or die shortly after birth.

Microcephaly[edit]

Microcephaly is a condition where a baby's head is significantly smaller than expected, often due to abnormal brain development. It can result from genetic abnormalities, infections during pregnancy, or exposure to harmful substances. Microcephaly can lead to developmental delays and neurological problems.

Hydrocephalus[edit]

Hydrocephalus is characterized by an accumulation of cerebrospinal fluid within the brain's ventricles, leading to increased pressure inside the skull. This can cause an enlarged head, brain damage, and other complications. Treatment often involves surgical intervention to drain the excess fluid.

Holoprosencephaly[edit]

Holoprosencephaly is a disorder resulting from the failure of the forebrain to divide into two hemispheres. This can lead to facial abnormalities and severe neurological impairments. The severity of holoprosencephaly varies widely among affected individuals.

Craniosynostosis[edit]

Craniosynostosis is a condition where one or more of the sutures in a baby's skull close prematurely, affecting the shape of the head and potentially leading to increased intracranial pressure. Surgical intervention is often required to correct the skull shape and prevent complications.

Causes[edit]

The causes of cephalic disorders are multifactorial and can include:

Diagnosis[edit]

Cephalic disorders are typically diagnosed through a combination of prenatal imaging techniques, such as ultrasound and MRI, and postnatal physical examinations. Genetic testing may also be used to identify specific mutations associated with these conditions.

Treatment[edit]

Treatment for cephalic disorders varies depending on the specific condition and its severity. Options may include:

  • Surgical interventions to correct structural abnormalities
  • Medications to manage symptoms and complications
  • Supportive therapies, such as physical and occupational therapy, to aid development

Prognosis[edit]

The prognosis for individuals with cephalic disorders depends on the type and severity of the condition. Some disorders, like anencephaly, are incompatible with life, while others, such as mild forms of craniosynostosis, can be managed effectively with treatment.

Related pages[edit]