Conditions / Syndrome
acrocallosal syndrome
info · Syndrome
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Signs and symptoms
- Aplasia/Hypoplasia of the corpus callosum
- Macrocephaly
- Hypertelorism
- Wide nasal bridge
- Intellectual disability
- Preaxial hand polydactyly
- Duplication of thumb phalanx
- Preaxial foot polydactyly
- Postaxial hand polydactyly
- Duplication of phalanx of hallux
Also known as: ACLS; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syndrome 1