Acrocallosal syndrome
| Acrocallosal syndrome | |
|---|---|
| Polydactyly and hallux duplication in a 1-day-old infant due to acrocallosal syndrome. | |
| Specialty | Medical genetics |
| Symptoms | Agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation with hypotonia, polydactyly |
| Duration | Lifelong |
| Causes | Mutations in KIF7 or GLI3 |
| Frequency | Fewer than 50 cases |
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.