Rare diseases · Sign or symptom
Dysplastic corpus callosum
HP:0006989
What it means
Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
Rare diseases that can present with this15
Common30–79%
2Sometimes5–29%
13- Autosomal recessive cutis laxa type 2A
- Cerebrofacioarticular syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Kapur-Toriello syndrome
- Lissencephaly due to TUBA1A mutation
- Oculoskeletodental syndrome
- Polymicrogyria with optic nerve hypoplasia
- Pontocerebellar hypoplasia type 2
and 5 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Dysgenesis of corpus callosum · Dysplasia of corpus callosum
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.