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Acrocallosal syndrome
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. The syndrome was first described by Albert Schinzel in 1979.
It is associated with ''GLI3''.
== Signs and Symptoms ==
Acrocallosal syndrome (ACLS, ACS, Schinzel-Type, Hallux-duplication) is a rare, heterogeneous () autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy (). To inherit ACLS, one gene copy from each parent must contain a mutation somewhere in the KIF7 gene and be passed on to the child (). Characteristics of this syndrome include absence or poor development of the area connecting the left and right parts of the brain, an abnormally large head, increased distance between facial features (eyes), poor motor skills, mental retardation (), extra fingers and toes, many facial deformities (), and cleft palate (). This is considered a rare disorder and is placed on the NIH Office of Rare Diseases (fewer than 200,000 cases) rare disease list (). Lifespan may range from stillbirth to normal expectancy depending on pregnancy complications and severity of the disorder (). In mild cases, the subjects have been shown to live relatively normal lives, but with developmental delays ().
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