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| | __NOTOC__ |
| {{DiseaseDisorder infobox | | | {{DiseaseDisorder infobox | |
| Name = Microcephaly | | | Name = Microcephaly | |
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| MeshID = 22629 | | | MeshID = 22629 | |
| }} | | }} |
| {{SI}} | | {{Microcephaly}} |
| | '''For patient information, click [[Microcephaly (patient information)|here]]''' |
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| {{CMG}} | | {{CMG}} |
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| ==Overview== | | ==[[Microcephaly overview|Overview]]== |
| Microcephaly is a neurological disorder in which the circumference of the head is significantly three [[standard deviations]] smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the ''[[microcephalin]]'' genes causes primary microcephaly.
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| [[Infant|Infants]] with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the [[skull]] becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and [[Speech communication|speech]] may be delayed. Hyperactivity and mental retardation are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic [[quadriplegia]] in others. | | ==[[Microcephaly historical perspective|Historical Perspective]]== |
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| ==Natural History, Complications, Prognosis== | | ==[[Microcephaly classification|Classification]]== |
| Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.
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| ===Prognosis===
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| In general, life expectancy for individuals with microcephaly is reduced. The prognosis varies depending on the presence of associated abnormalities.
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| ==Pathophysiology== | | ==[[Microcephaly pathophysiology|Pathophysiology]]== |
| '''Microcephaly''' is a disorder characterized by a small brain and may be caused by a disturbance in the proliferation of nerve cells. Microcephaly may also be associated with maternal problems such as [[alcoholism]] (which can result in the [[Fetal alcohol syndrome]] disability), diabetes, or [[rubella]] ([[German measles]]). A genetic factor may play a role in causing some cases of microcephaly. Affected newborns generally have striking neurological defects and seizures. Severely impaired intellectual development is common, but disturbances in motor functions may not appear until later in life.
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| ==Causes== | | ==[[Microcephaly causes|Causes]]== |
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| ===Common Causes=== | | ==[[Microcephaly epidemiology and demographics|Epidemiology and Demographics]]== |
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| #[[Anencephaly]]
| | ==[[Microcephaly risk factors|Risk Factors]]== |
| #[[Cerebral atrophy]]; perinatal brain damage from [[hypoxia]]
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| #Congenital transplacental infection
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| #*[[Toxoplasmosis]]
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| #*[[Rubella]]
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| #*[[Cytomegalovirus]]
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| #*[[Herpes]]
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| #*[[Syphilis]]
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| #[[Craniosynostosis]] (total)
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| #[[Encephalocele]]
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| #[[Micrencephaly]] (idiopathic small brain)
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| ===Uncommon Causes=== | | ==[[Microcephaly screening|Screening]]== |
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| *Aminopterin fetopathy
| | ==[[Microcephaly natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| *[[Aspartylglucosaminuria]]
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| *[[Beckwith-Wiedemann syndrome]]
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| *Børjeson-Forssman-Lehman syndrome
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| *[[Brachmann-de Lange syndrome]] ([[de Lange syndrome]])
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| *Cephaloskeletal dysplasia (Taybi-Linder syndrome)
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| *Cerebro-oculo-facio-skeletal syndrome (Pena–Shokein syndrome type II)
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| *[[Chondrodysplasia punctata]] (rhizomelic type)
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| *[[Christian syndrome]] ([[adducted thumbs syndrome]])
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| *Chromosome syndromes
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| :*4: del [[4p syndrome]] ([[Wolf-Hirschhorn syndrome]])
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| :*5: del [[5p syndrome]] ([[cat cry syndrome]], [[cri du chat syndrome]])
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| :*7: del 7q syndrome
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| :*9: dup [[9p syndrome]]
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| :*18: del [[18q syndrome]]
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| *[[Cockayne syndrome]]
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| *[[Coffin-Siris syndrome]]
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| *[[Cohen syndrome]]
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| *[[Cutis verticis gyrata]]
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| *[[Deprivation dwarfism]] ([[pyschosocial dwarfism]])
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| *[[Dubowitz syndrome]]
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| *[[Dyggve-Melchior-Clausen dysplasia]] ([[Smith–McCort syndrome]])
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| *[[Familial microcephaly]]
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| *[[Fanconi anemia]] ([[pancytopenia-dysmelia syndrome]])
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| *[[Fetal alcohol syndrome]]
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| *[[Fetal hydantoin syndrome]] ([[Dilantin embryopathy]])
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| *[[Fetal trimethadione syndrome]]
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| *[[Fraser syndrome]] ([[cryptophthalmia syndrome]])
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| *[[Freeman-Sheldon syndrome]] ([[whistling face syndrome]])
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| *[[Galloway-Mowat syndrome]]
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| *[[Goltz syndrome]] ([[focal dermal hypoplasia]])
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| *[[Happy puppet syndrome]] ([[Angelman syndrome]])
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| *[[Holoprosencephaly]]
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| *[[Arrhinencephaly]]
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| *[[Homocystinuria]]
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| *[[Incontinentia pigmenti]]
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| *[[Johanson-Blizzard syndrome]]
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| *[[Juberg-Hayward syndrome]]
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| *[[Kearns-Sayre syndrome]]
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| *[[Krabbe disease]] ([[globoid cell leukodystrophy]])
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| *[[Lenz microphthalmia syndrome]]
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| *[[Lesch-Nyhan syndrome]]
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| *[[Lissencephaly syndromes]] ([[congenital agyria]])
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| *[[Lowry-Wood syndrome]]
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| *[[Marden-Walker syndrome]]
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| *[[Marinesco-Sjögren syndrome]]
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| *[[Maternal phenylketonuria]]
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| *[[Meckel syndrome]]
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| *[[Menkes syndrome]] ([[kinky-hair syndrome]])
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| *[[Microcephalic osteodysplastic dysplasia]]
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| *[[Microcephaly-lymphedema syndrome]]
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| *[[Noonan syndrome]]
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| *[[Normal variant]]
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| *[[Oculo-auriculo-vertebral spectrum]] ([[Goldenhar-Gorlin syndrome]])
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| *[[Opitz trigonocephaly syndrome]] ([[C syndrome]])
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| *[[Prader-Willi syndrome]]
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| *[[Prenatal radiation]]
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| *[[Riley-Day syndrome]] ([[familial dysautonomia]])
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| *[[Rubinstein-Taybi syndrome]]
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| *[[Seckel syndrome]] ([[bird-headed dwarfism]])
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| *[[Smith-Lemli-Opitz syndrome]]
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| *[[Trichorhinophalangeal dysplasia]], type II ([[Langer-Giedion syndrome]]) and III ([[Ruvalcaba syndrome]])
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| *[[Trisomy 9 syndrome]]
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| *[[Trisomy 13 syndrome]]
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| *[[Trisomy 18 syndrome]]
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| *[[Trisomy 21 syndrome]] ([[Down syndrome]])
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| *[[Trisomy 22 syndrome]]
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| *[[XXXXX syndrome]]
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| ==Diagnosis== | | == Diagnosis == |
| ===Physical Examination===
| | [[Microcephaly history and symptoms| History and Symptoms]] | [[Microcephaly physical examination | Physical Examination]] | [[Microcephaly laboratory findings | Laboratory Findings]] | [[Microcephaly CT|CT]] | [[Microcephaly other diagnostic studies|Other diagnostic studies]] |
| ====Head====
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| THe circumference of the head is smaller than 3 standard deviations below that of age sex matched individuals.
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| <div align="center">
| | ==Treatment== |
| <gallery heights="175" widths="175">
| | [[Microcephaly medical therapy|Medical therapy]] | [[Microcephaly surgery|Surgery]] | [[Microcephaly primary prevention|Primary prevention]] | [[Microcephaly secondary prevention|Secondary prevention]] | [[Microcephaly cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Microcephaly future or investigational therapies|Future or Investigational Therapies]] |
| Image:Microcephaly 2.jpg|Diagram of microcephaly
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| Image:Microcephaly.jpg|Microcephaly. Primer cause unknown
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| </gallery>
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| </div>
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| <br>
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| ==Treatment== | | ==Case Studies== |
| Generally there is no specific treatment for microcephaly. Treatment is symptomatic and supportive.
| | [[Microcephaly case study one|Case #1]] |
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| == See Also == | | ==Related Chapters== |
| * [[Hydrocephaly]] | | * [[Hydrocephaly]] |
| * [[Macrocephaly]] | | * [[Macrocephaly]] |
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| == External links == | | == External links == |
| * [http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm NINDS Microcephaly Information Page ] | | * [http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm NINDS Microcephaly Information Page ] |
| * [http://www.microcephaly.co.uk/ Microcephaly Support Group]
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| * [http://www.telegraph.co.uk/core/Content/displayPrintable.jhtml?xml=/connected/2006/08/01/echuman01.xml&site=17&page=0 The Rat People of Pakistan]
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| * [http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm NINDS Overview] | | * [http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm NINDS Overview] |
| * [http://www.sideshowworld.com/tgodschlitzie.html Schlitzie The Pinhead]
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| * [http://www.greenpeace.org/international/news/world-press-photo-awards World Press Photo Award-winning photograph of a Russian microcephalic child]
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| {{Congenital malformations and deformations of nervous system}}
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| [[Category:Congenital disorders]] | | [[Category:Congenital disorders]] |
| [[Category:Genetic disorders]] | | [[Category:Genetic disorders]] |
| [[Category:Nervous system]] | | [[Category:Nervous system]] |
| | [[Category:Medical signs]] |
| [[Category:Signs and symptoms]] | | [[Category:Signs and symptoms]] |
| [[Category:Pediatrics]] | | [[Category:Pediatrics]] |
| | [[Category:FLK]] |
| | [[Category:Disease]] |
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| [[ar:جمجمة صغيرة]]
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| [[cs:Mikrocefalie]]
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| [[de:Mikrozephalie]]
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| [[es:Microcefalia]]
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| [[fr:Microcéphalie]]
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| [[pl:Mikrocefalia]]
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| [[pt:Microcefalia]]
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| [[ru:Микроцефалия]]
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| [[sv:Mikrocefali]]
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