Lowry-MacLean syndrome

MONDO:0010851

Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.

Also known as: Lowry-MacLean syndrome, Lowry MacLean syndrome, intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure, mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure

1 clinical trial for this condition and its sub-types, 0 tagged with Lowry-MacLean syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Eye disorder (3068) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Syndromic craniosynostosis (22)

Including sub-types (1) Tagged with Lowry-MacLean syndrome (0)

Trials to join now! 1

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders

Disease control Recruiting now

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Disease control

Last updated Sep 10, 2026 00:00 UTC

Lowry-MacLean syndrome

Where it sits in the disease tree

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders