Rare diseases · Sign or symptom
Pachygyria
Fewer and broader ridges in brain
HP:0001302
What it means
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Rare diseases that can present with this45
Very common80–99%
10- Aicardi syndrome
- Autosomal recessive frontotemporal pachygyria
- Baraitser-Winter cerebrofrontofacial syndrome
- CK syndrome
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Micro syndrome
- Multiple mitochondrial dysfunctions syndrome type 5
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- Walker-Warburg syndrome
- X-linked lissencephaly with abnormal genitalia
Common30–79%
12- Autosomal recessive cutis laxa type 2A
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive primary microcephaly
- CEDNIK syndrome
- Galloway-Mowat syndrome
- Isolated lissencephaly type 1 without known genetic defects
- Lissencephaly due to LIS1 mutation
- Lissencephaly type 1 due to doublecortin gene mutation
- Neu-Laxova syndrome
- Pelizaeus-Merzbacher disease, connatal form
- Tubulinopathy-associated dysgyria
- Yunis-Varon syndrome
Sometimes5–29%
21- ALG12-CDG
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Congenital infiltrating lipomatosis of the face
- Desmosterolosis
- Early infantile developmental and epileptic encephalopathy
- FOXG1 syndrome
- Goldberg-Shprintzen megacolon syndrome
- Hemimegalencephaly
and 13 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: Cerebral pachygyria · Macrogyria
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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.