Rare diseases · Sign or symptom
Abnormal corpus callosum morphology
HP:0001273
What it means
Abnormality of the corpus callosum.
The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium.
Rare diseases that can present with this40
Very common80–99%
3Common30–79%
17- Adult Krabbe disease
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- CEDNIK syndrome
- Combined oxidative phosphorylation defect type 39
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- De Barsy syndrome
- FOXG1 syndrome
- Glioblastoma
- Lissencephaly due to LIS1 mutation
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Opitz GBBB syndrome
- Pyruvate dehydrogenase E3-binding protein deficiency
- Rubinstein-Taybi syndrome
- Septopreoptic holoprosencephaly
- Superficial siderosis
- Susac syndrome
Sometimes5–29%
20- 21q deletion syndrome
- Combined oxidative phosphorylation defect type 13
- Epilepsy of infancy with migrating focal seizures
- Fumaric aciduria
- Gamma-aminobutyric acid transaminase deficiency
- Houge-Janssens syndrome type 1
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
and 12 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal corpus callosum · Abnormality of the corpus callosum · Corpus callosum abnormality
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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.