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
ORPHA:36 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Macrocephaly
- Hypertelorism
- Postaxial hand polydactyly
- Aplasia/Hypoplasia of the corpus callosum
- Intellectual disability, severe
- Prominent occiput