Microcephaly

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.A plain English term for a person with a microcephalic condition, now discouraged, is pinhead. (From the Wikpedia article Microcephaly.)

Download PDF containing detailed information.

Recent Publications on Microcephaly:
Physical and Neurodevelopmental Evaluation of Children Adopted from Eastern Europe. Presented in part at The Canadian Pediatric Society 83rd Meeting in June...	21st November, 2009		Can J Clin Pharmacol. 2009 Fall;16(3):e432-e440. Epub 2009 Oct 29.
A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. Mcph1 is mutated in autosomal recessive primary microcephaly and premature...	21st November, 2009	Section of Structural Biology, Institute of Cancer Research, Chester	J Mol Biol. 2009 Nov 16. DOI Direct Link
Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. Feingold syndrome is a rare autosomal dominant condition that is...	19th November, 2009	Department of Radiology, Mayo Clinic Graduate School of Medical Education,	Am J Med Genet A. 2009 Nov 16. DOI Direct Link
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome? We report on a Brazilian mother and her son affected with mandibulofacial...	19th November, 2009	Department of Clinical Genetics, Hospital of Rehabilitation of	Am J Med Genet A. 2009 Nov 16. DOI Direct Link
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a...	18th November, 2009	Department of Neurological Surgery, University of California, San	J Neurosurg Pediatr. 2009 Nov;4(5):439-44. DOI Direct Link
→View more research publications.

Microcephaly Patents:
US Patent No.	Title
7030134	Pyrazolopyridinyl pyridine and pyrimidine therapeutic compounds
7153855	Pyrazolopyridinyl pyrimidine therapeutic compounds
7153863	Therapeutic compounds based on pyrazolopyridline derivatives
7160897	Therapeutic compounds
7163940	Pyrazolopyridinyl pyrimidine therapeutic compounds
→View more patents.

BioPortfolio Ltd. offers e-mail and postal lists for Microcephaly scientists - we have details of around 442 individuals working on Microcephaly .