ORPHA:1662
Restrictive dermopathy
Synonyms: Lethal hyperkeratosis-contracture syndrome · Lethal restrictive dermopathy · Lethal tight skin-contracture syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Restrictive dermopathy | Lethal hyperkeratosis-contracture syndrome · Lethal restrictive dermopathy · Lethal tight skin-contracture syndrome |
| fr | Dermopathie restrictive | Dermopathie restrictive létale |
| de | Restriktive Dermopathie | Dermopathie, letale restriktive · Letale Hyperkeratose-Kontrakturen-Syndrom |
| es | Dermopatía restrictiva | Dermopatía restrictiva letal · Síndrome de contracturas-piel tensa letal · Síndrome de hiperqueratosis-contracturas letal |
| it | Dermopatia restrittiva | Dermopatia restrittiva letale · Sindrome contratture-aderenze cutanee · Sindrome contratture-ipercheratosi |
| nl | Restrictieve dermopathie | Letaal hyperkeratose - contracturen-syndroom · Letaal strakke huid - contracturen-syndroom · Letale restrictieve dermatopathie |
| pt | Dermopatia restritiva | Dermopatia restritiva letal |
| pl | Dermopatia restrykcyjna | Tight skin contracture syndrome · Letalna dermopatia restrykcyjna · Zespół hiperkeratozy i przykurczy |
| cs | Restriktivní dermopatie | Syndrom zahrnující hyperkeratózu a kontraktury · Letální restriktivní dermopatie · Syndrom s kontrakturami a napjatou kůží |
| uk | Рестриктивна дермопатія | Летальний гіперкератозно-контрактурний синдром · Летальна рестриктивна дермопатія · Смертельний синдром тугого стиснення шкіри |
| zh | 限制性皮肤病 | 致死性皮肤角化过度-挛缩综合征 |
| tr | Kısıtlayıcı dermopati | Letal kısıtlayıcı dermopati · Letal sıkı cilt kontraktür sendromu · Letal hiperkeratoz kontraktür sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275210 | E | validated | |
| OMIM | 619793 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EE6Y | NTBT | index | validated |
| MONDO | 0031213 | E | validated | |
| MONDO | 31213 | E | validated | |
| MeSH | C536920 | E | validated | |
| UMLS | C0406585 | E | validated | |
| GARD | 1516 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:300766Laminopathy with premature aging
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 18470519[PMID]_19020898[PMID] |
| ZMPSTE24 | Disease-causing germline mutation(s) in | Assessed | HGNC:12877 | ENSG00000084073 | 606480 | 1p34.2 | zinc metallopeptidase STE24 | 18470519[PMID]_19020898[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
58 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030053 | Stiff skin | |
| Very frequent (99-80%) | ||
| HP:0025354 | Abnormal cellular phenotype | |
| HP:0002597 | Abnormality of the vasculature | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | |
| HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001558 | Decreased fetal movement | |
| HP:0004331 | Decreased skull ossification | |
| HP:0004334 | Dermal atrophy | |
| HP:0010648 | Dermal translucency | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000621 | Entropion | |
| HP:0005595 | Generalized hyperkeratosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000316 | Hypertelorism | |
| HP:0005253 | Increased anterioposterior diameter of thorax | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000160 | Narrow mouth | |
| HP:0000938 | Osteopenia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001622 | Premature birth | |
| HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0040189 | Scaling skin | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001196 | Short umbilical cord | |
| HP:0200041 | Skin erosion | |
| HP:0006266 | Small placenta | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0010219 | Structural foot deformity | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000506 | Telecanthus | |
| HP:0012478 | Temporomandibular joint ankylosis | |
| HP:0006645 | Thin clavicles | |
| HP:0000883 | Thin ribs | |
| HP:0004492 | Widely patent fontanelles and sutures | |
| Occasional (29-5%) | ||
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0001631 | Atrial septal defect | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000453 | Choanal atresia | |
| HP:0008244 | Congenital adrenal hypoplasia | |
| HP:0001651 | Dextrocardia | |
| HP:0000047 | Hypospadias | |
| HP:0006267 | Large placenta | |
| HP:0004388 | Microcolon | |
| HP:0000695 | Natal tooth | |
| HP:0001561 | Polyhydramnios | |
| HP:0001799 | Short nail | |
| HP:0005659 | Thoracic kyphoscoliosis | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0000073 | Ureteral duplication | |
| HP:0000465 | Webbed neck | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24169522[PMID]_21127399[PMID]_15843403[PMID]_15317753[PMID]_15897383[PMID]_3840649[PMID]_8291564[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1662
- This record as JSON: /data/d/1662.json