craniotelencephalic dysplasia
Findings
No curated finding names craniotelencephalic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
Definition from the Mondo Disease Ontology (MONDO:0009042), read 2026-09-29. CC BY 4.0.
Features
15 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.
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- ArrhinencephalyHPOHP:0002139
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Frontoethmoidal encephalocele
Show the remaining 3
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Septo-optic dysplasiaHPOHP:0100842
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)