acrocallosal syndrome
ICD-10: Q04.0MeSH: D055673ORPHA: 36
Overview
syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acrocallosal syndrome, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaCryptorchidismHypospadiasTall statureMacrocephalyWide anterior fontanelProminent occiputHypertelorismSloping foreheadSensorineural hearing impairmentCongenital diaphragmatic herniaAbnormal clavicle morphologyPostaxial hand polydactylyTriphalangeal thumbDandy-Walker malformationAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumSevere intellectual disability
Classification & Codes
ICD-10 Code
Q04.0MeSH Code
D055673Orphanet Code
ORPHA:36acrocallosal syndrome
| ICD-10 | Q04.0 |
| MeSH | D055673 |
| Orphanet | ORPHA:36 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO