Microcephaly

WikiDoc Resources for Microcephaly
Articles
Most recent articles on Microcephaly Most cited articles on Microcephaly Review articles on Microcephaly Articles on Microcephaly in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Microcephaly Images of Microcephaly Photos of Microcephaly Podcasts & MP3s on Microcephaly Videos on Microcephaly
Evidence Based Medicine
Cochrane Collaboration on Microcephaly Bandolier on Microcephaly TRIP on Microcephaly
Clinical Trials
Ongoing Trials on Microcephaly at Clinical Trials.gov Trial results on Microcephaly Clinical Trials on Microcephaly at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Microcephaly NICE Guidance on Microcephaly NHS PRODIGY Guidance FDA on Microcephaly CDC on Microcephaly
Books
Books on Microcephaly
News
Microcephaly in the news Be alerted to news on Microcephaly News trends on Microcephaly
Commentary
Blogs on Microcephaly
Definitions
Definitions of Microcephaly
Patient Resources / Community
Patient resources on Microcephaly Discussion groups on Microcephaly Patient Handouts on Microcephaly Directions to Hospitals Treating Microcephaly Risk calculators and risk factors for Microcephaly
Healthcare Provider Resources
Symptoms of Microcephaly Causes & Risk Factors for Microcephaly Diagnostic studies for Microcephaly Treatment of Microcephaly
Continuing Medical Education (CME)
CME Programs on Microcephaly
International
Microcephaly en Espanol Microcephaly en Francais
Business
Microcephaly in the Marketplace Patents on Microcephaly
Experimental / Informatics
List of terms related to Microcephaly

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

OVerview

Microcephaly is a neurological disorder in which the circumference of the head is significantly 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.

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 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.

Generally there is no specific treatment for microcephaly. Treatment is symptomatic and supportive.

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

• 
  Diagram of microcephaly
• 
  Microcephaly. Primer cause unknown

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.

Differential Diagnosis of Causes of Microcephaly

COMMON

1. Anencephaly
2. Cerebral atrophy; perinatal brain damage from hypoxia
3. Congenital transplacental infection
   • Toxoplasmosis
   • Rubella
   • Cytomegalovirus
   • Herpes
   • Syphilis
4. Craniosynostosis (total)
5. Encephalocele
6. Micrencephaly (idiopathic small brain)

UNCOMMON

• Aminopterin fetopathy
• Aspartylglucosaminuria
• Beckwith-Wiedemann syndrome
• Børjeson-Forssman-Lehman syndrome
• Brachmann-de Lange syndrome (de Lange syndrome)
• Cephaloskeletal dysplasia (Taybi-Linder syndrome)
• Cerebro-oculo-facio-skeletal syndrome (Pena–Shokein syndrome type II)
• Chondrodysplasia punctata (rhizomelic type)
• Christian syndrome (adducted thumbs syndrome)
• Chromosome syndromes

• 4: del 4p syndrome (Wolf-Hirschhorn syndrome)
• 5: del 5p syndrome (cat cry syndrome, cri du chat syndrome)
• 7: del 7q syndrome
• 9: dup 9p syndrome
• 18: del 18q syndrome

• Cockayne syndrome
• Coffin-Siris syndrome
• Cohen syndrome
• Cutis verticis gyrata
• Deprivation dwarfism (pyschosocial dwarfism)
• Dubowitz syndrome
• Dyggve-Melchior-Clausen dysplasia (Smith–McCort syndrome)
• Familial microcephaly
• Fanconi anemia (pancytopenia-dysmelia syndrome)
• Fetal alcohol syndrome
• Fetal hydantoin syndrome (Dilantin embryopathy)
• Fetal trimethadione syndrome
• Fraser syndrome (cryptophthalmia syndrome)
• Freeman-Sheldon syndrome (whistling face syndrome)
• Galloway-Mowat syndrome
• Goltz syndrome (focal dermal hypoplasia)
• Happy puppet syndrome (Angelman syndrome)
• Holoprosencephaly
• Arrhinencephaly
• Homocystinuria
• Incontinentia pigmenti
• Johanson-Blizzard syndrome
• Juberg-Hayward syndrome
• Kearns-Sayre syndrome
• Krabbe disease (globoid cell leukodystrophy)
• Lenz microphthalmia syndrome
• Lesch-Nyhan syndrome
• Lissencephaly syndromes (congenital agyria)
• Lowry-Wood syndrome
• Marden-Walker syndrome
• Marinesco-Sjögren syndrome
• Maternal phenylketonuria
• Meckel syndrome
• Menkes syndrome (kinky-hair syndrome)
• Microcephalic osteodysplastic dysplasia
• Microcephaly-lymphedema syndrome
• Noonan syndrome
• Normal variant
• Oculo-auriculo-vertebral spectrum (Goldenhar-Gorlin syndrome)
• Opitz trigonocephaly syndrome (C syndrome)
• Prader-Willi syndrome
• Prenatal radiation
• Riley-Day syndrome (familial dysautonomia)
• Rubinstein-Taybi syndrome
• Seckel syndrome (bird-headed dwarfism)
• Smith-Lemli-Opitz syndrome
• Trichorhinophalangeal dysplasia, type II (Langer-Giedion syndrome) and III (Ruvalcaba syndrome)
• Trisomy 9 syndrome
• Trisomy 13 syndrome
• Trisomy 18 syndrome
• Trisomy 21 syndrome (Down syndrome)
• Trisomy 22 syndrome
• XXXXX syndrome

See Also

• Hydrocephaly
• Macrocephaly
• Seckel syndrome
• Anencephaly

External links

• Microcephaly Help in the US
• NINDS Microcephaly Information Page
• Microcephaly Support Group
• The Rat People of Pakistan
• NINDS Overview
• Schlitzie The Pinhead
• World Press Photo Award-winning photograph of a Russian microcephalic child

Template:WikiDoc Sources