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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

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

Can a gene mutation explain Autism's many faces?

Knowledge-focused Ongoing

This study follows individuals with autism who carry a PTEN gene mutation, along with comparison groups, to track changes in thinking, language, and behavior over time. Researchers will also collect blood samples and medical data to build a large database for future studies. The …

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Aug 08, 2026 00:03 UTC

Megalencephaly

Where it sits in the disease tree

Can a gene mutation explain Autism's many faces?