Megalencephaly

MONDO:0016608

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).

Also known as: macroencephaly, megalencephaly, megalencephaly (disease)

3 clinical trials for this condition and its sub-types, 3 tagged with Megalencephaly itself.

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Where it sits in the disease tree

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Part of

↑ Brain disorder (16709) ↑ Disorder of development or morphogenesis (5188)

Sub-types of Megalencephaly

Bagatelle Cassidy syndrome 0 trials
Isolated megalencephaly 0 trials
Macrocephaly/megalencephaly syndrome, autosomal recessive 0 trials
Megalencephaly, autosomal dominant 0 trials

Including sub-types (3) Tagged with Megalencephaly (3)

Trials to join now! 1 Not yet finished but already full! 1 Completed 1

New registry sheds light on rare overgrowth diseases

Knowledge-focused Completed

This completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:07 UTC

Megalencephaly

Where it sits in the disease tree

New registry sheds light on rare overgrowth diseases