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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{{Congenital malformations and deformations of nervous system}}
 
 
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Latest revision as of 20:37, 8 August 2012

Acrocallosal syndrome
OMIM 200990
MeSH D055673

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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

  1. Online Mendelian Inheritance in Man (OMIM) Acrocallosal syndrome; ACLS -200990
  2. 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)

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