restrictive dermopathy
Findings
No curated finding names restrictive dermopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0031213), read 2026-09-29. CC BY 4.0.
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Stiff skinHPOHP:0030053
- Obligate (100% of cases)
- Abnormal cellular phenotypeHPOHP:0025354
- Very frequent (80% to 99% of cases)
- Abnormality of the vasculatureHPOHP:0002597
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the noseHPOHP:0009924
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the claviclesHPOHP:0006710
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eccrine sweat glandsHPOHP:0007592
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- Decreased skull ossificationHPOHP:0004331
- Very frequent (80% to 99% of cases)
- Dermal atrophyHPOHP:0004334
- Very frequent (80% to 99% of cases)
- Dermal translucencyHPOHP:0010648
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
Show the remaining 46
- EntropionHPOHP:0000621
- Very frequent (80% to 99% of cases)
- Generalized hyperkeratosisHPOHP:0005595
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Increased anterioposterior diameter of thoraxHPOHP:0005253
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
Where it sits
- A kind of
- Narrower terms (2)
Other names
3 names
Resolves to: restrictive dermopathy
- Also called
- lethal hyperkeratosis-contracture syndromelethal restrictive dermopathylethal tight skin-contracture syndrome