Acrocallosal syndrome
Encyclopedia
Acrocallosal syndrome is a rare autosomal recessive
syndrome characterized by corpus callosum agenesis, polydactyly
, multiple dysmorphic feature
s, motor and mental retardation, and other symptoms. The syndrome was first described by Albert Schinzel in 1979.
It is associated with GLI3
.
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
syndrome characterized by corpus callosum agenesis, polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
, multiple dysmorphic feature
Dysmorphic feature
Dysmorphic feature is a medical term referring to a difference of body structure that is suggestive of a congenital disorder, genetic syndrome, or birth defect. A dysmorphic feature can be a minor and isolated birth defect...
s, motor and mental retardation, and other symptoms. The syndrome was first described by Albert Schinzel in 1979.
It is associated with GLI3
Gli3
Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene.This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog signaling...
.