Restrictive dermopathy 1

MONDO:0800042

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Also known as: restrictive dermopathy, fetal hypokinesia sequence due to restrictive dermopathy, foetal hypokinesia sequence due to restrictive dermopathy, hyperkeratosis-contracture syndrome, restrictive dermopathy 1, lethal, tight skin contracture syndrome, lethal, restrictive dermopathy, lethal

1 clinical trial for this condition and its sub-types, 0 tagged with Restrictive dermopathy 1 itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (90) ↑ Laminopathy (25) ↑ Restrictive dermopathy (0)

Including sub-types (1) Tagged with Restrictive dermopathy 1 (0)

Trials to join now! 1

Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others

Knowledge-focused Recruiting now

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

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

Last updated Jun 27, 2026 09:10 UTC

Restrictive dermopathy 1

Where it sits in the disease tree

Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others