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Restrictive dermopathy

Disease Export to PDF
Name:
Restrictive dermopathy
Description:
A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
ORPHAcode:
1662
Synonyms:
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
ZMPSTE24
LMNA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14