Acrocallosal syndrome: Difference between revisions
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==Overview== | |||
'''Acrocallosal syndrome''' (also known as '''ACLS''') is a rare [[autosomal]] [[recessive]] syndrome characterized by [[corpus callosum agenesis]], [[polydactyly]], multiple [[dysmorphic feature]]s, motor and mental retardation, and other symptoms.<ref>{{OMIM|200990|Acrocallosal syndrome; ACLS}}</ref> The syndrome was first described by Albert Schinzel in 1979.<ref>{{cite journal |first=Albert |last=Schinzel |title=Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome? |journal=Helvetica Paediatrica Acta |volume=34 |issue=2 |pages=141–6 |year=1979 |month=May |pmid=457430 |doi= |url=http://www.ncbi.nlm.nih.gov/pubmed/457430?dopt=Abstract}}</ref> | '''Acrocallosal syndrome''' (also known as '''ACLS''') is a rare [[autosomal]] [[recessive]] syndrome characterized by [[corpus callosum agenesis]], [[polydactyly]], multiple [[dysmorphic feature]]s, motor and mental retardation, and other symptoms.<ref>{{OMIM|200990|Acrocallosal syndrome; ACLS}}</ref> The syndrome was first described by Albert Schinzel in 1979.<ref>{{cite journal |first=Albert |last=Schinzel |title=Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome? |journal=Helvetica Paediatrica Acta |volume=34 |issue=2 |pages=141–6 |year=1979 |month=May |pmid=457430 |doi= |url=http://www.ncbi.nlm.nih.gov/pubmed/457430?dopt=Abstract}}</ref> | ||
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==External links== | ==External links== | ||
*{{RareDiseases|5721|Acrocallosal syndrome, Schinzel type}} | *{{RareDiseases|5721|Acrocallosal syndrome, Schinzel type}} | ||
{{Congenital malformations and deformations of nervous system}} | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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Latest revision as of 20:37, 8 August 2012
| Acrocallosal syndrome | |
| OMIM | 200990 |
|---|---|
| MeSH | D055673 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation, and other symptoms.[1] The syndrome was first described by Albert Schinzel in 1979.[2]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) Acrocallosal syndrome; ACLS -200990
- ↑ Schinzel, Albert (1979). "Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome?". Helvetica Paediatrica Acta. 34 (2): 141–6. PMID 457430. Unknown parameter
|month=ignored (help)
External links
Template:Congenital malformations and deformations of nervous system