Acrocallosal syndrome
| Acrocallosal syndrome | |
| OMIM | 200990 |
|---|---|
| MeSH | D055673 |
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
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External links
Template:Congenital malformations and deformations of nervous system