ORPHA:36
Acrocallosal syndrome
Also called ACS
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
About this disease
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
Definition from Orphanet.
Common signs
- Macrocephaly
- Hypertelorism
- Postaxial hand polydactyly
- Aplasia/Hypoplasia of the corpus callosum
- Intellectual disability, severe
- Prominent occiput
Learn more
Source: Orphanet (Orphadata), ORPHA:36. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.