restrictive dermopathy
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.
MONDO:0003847
hereditary disease
is_a
hyperkeratosis-contracture syndrome
narrow
lethal hyperkeratosis-contracture syndrome
exact
lethal restrictive dermopathy
exact
lethal tight skin-contracture syndrome
exact
SPAC3H1.05