acrocallosal syndrome
Findings
No curated finding names acrocallosal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0008708), read 2026-09-29. CC BY 4.0.
Features
74 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MacrocephalyHPOHP:0000256
- 25 of 27 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 24 of 26 reported patients
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- 24 of 26 reported patients
- Intellectual disabilityHPOHP:0001249
- 23 of 25 reported patients
- Frontal bossingHPOHP:0002007
- 23 of 26 reported patients
- Generalized hypotoniaHPOHP:0001290
- 20 of 23 reported patients
- Abnormal pinna morphologyHPOHP:0000377
- 19 of 23 reported patients
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- Duplication of phalanx of halluxHPOHP:0010066
- Very frequent (80% to 99% of cases)
- Duplication of thumb phalanxHPOHP:0009942
- Very frequent (80% to 99% of cases)
- Postaxial foot polydactylyHPOHP:0001830
- Very frequent (80% to 99% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Very frequent (80% to 99% of cases)
Show the remaining 62
- Preaxial foot polydactylyHPOHP:0001841
- Very frequent (80% to 99% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Dandy-Walker malformationHPOHP:0001305
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIF7HGNC:30497
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal recessive · 2021
- GLI3HGNC:4319
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: acrocallosal syndrome
- Also called
- ACLSACSSchinzel acrocallosal syndromeSchinzel syndrome 1