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Start free with EleplanRestrictive dermopathy
ORPHA:1662Disease
Also called Lethal hyperkeratosis-contracture syndrome · Lethal restrictive dermopathy · Lethal tight skin-contracture syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
41- Abnormal cellular phenotype
- Abnormality of the vasculature
- Aplasia/Hypoplasia involving the nose
- Aplasia/Hypoplasia of the clavicles
- Aplasia/Hypoplastia of the eccrine sweat glands
- Arthrogryposis multiplex congenita
- Decreased fetal movement
- Decreased skull ossification
- Dermal atrophy
- Dermal translucency
- Downslanted palpebral fissures
- Entropion
- Generalized hyperkeratosis
- Hyperkeratosis
- Hypertelorism
- Increased anterioposterior diameter of thorax
- Intrauterine growth retardation
- Low-set ears
- Micrognathia
- Multiple joint contractures
- Narrow mouth
- Osteopenia
- Patent ductus arteriosus
- Premature birth
- Premature delivery because of cervical insufficiency or membrane fragility
- Pulmonary hypoplasia
- Scaling skin
- Short palpebral fissure
- Short umbilical cord
- Skin erosion
- Small placenta
- Sparse eyebrow
- Sparse hair
- Sparse or absent eyelashes
- Structural foot deformity
- Submucous cleft hard palate
- Telecanthus
- Temporomandibular joint ankylosis
- Thin clavicles
- Thin ribs
- Widely patent fontanelles and sutures
Sometimes5–29%
16- Ascending tubular aorta aneurysm
- Atrial septal defect
- Camptodactyly of finger
- Choanal atresia
- Congenital adrenal hypoplasia
- Dextrocardia
- Hypospadias
- Large placenta
and 8 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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