Gamuts

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 intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979.It is associated with GLI3. [Source: Wikipedia ]

OrphaNet reference
Acrocallosal syndrome 
May Cause
Agenesis or hypoplasia of the corpus callosum
Brachydactyly
Carpal fusion
Cleft lip/palate
Congenital abnormality of great toe
Congenital hydrocephalus
Congenital macrocephaly
Congenital short hands and feet
Duplication of great toe
Frontal bossing
Hydrocephalus
Hypertelorism
Large fontanelle
Macrocephaly
Periauricular pits
Periauricular tag
Polydactyly
Postaxial polydactyly
OrphaNet reference
Acrocallosal syndrome 
May Cause
Agenesis or hypoplasia of the corpus callosum
Brachydactyly
Carpal fusion
Cleft lip/palate
Congenital abnormality of great toe
Congenital hydrocephalus
Congenital macrocephaly
Congenital short hands and feet
Duplication of great toe
Frontal bossing
Hydrocephalus
Hypertelorism
Large fontanelle
Macrocephaly
Periauricular pits
Periauricular tag
Polydactyly
Postaxial polydactyly


Copyright © 2025, Charles E. Kahn, Jr., MD, MS
ALL RIGHTS RESERVED
About "Gamuts"

Quiz