Arthrogryposis-hyperkeratosis syndrome, lethal form
historical
Synonyms: Johnston-Aarons-Schelley syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-hyperkeratosis syndrome, lethal form | Johnston-Aarons-Schelley syndrome |
| fr | Arthrogrypose-hyperkératose létale | Syndrome de Johnston-Aarons-Schelley |
| de | Arthrogrypose-Hyperkeratose-Syndrom, letaler Typ | Johnston-Aarons-Schelley-Syndrom |
| es | Síndrome de artrogriposis-hiperqueratosis, forma letal | |
| it | Artrogriposi - ipercheratosi, forma letale | Sindrome di Johnston-Aarons-Schelley |
| nl | Artrogrypose - hyperkeratose-syndroom, letale vorm | Syndroom van Johnston-Aarons-Schelley |
| pt | Síndrome de artrogripose-hiperqueratose, forma letal | Síndrome Johnston-Aarons-Schelley |
| pl | Artrogrypoza - hiperkeratoza forma śmiertelna | Zespół Johnstona, Aaronsa i Schelley |
| cs | Syndrom zahrnující artrogrypózu a hyperkeratózu, letální forma | Johnstonové-Aaronsův-Schelleyové syndrom · Johnston-Aarons-Schelleyové syndrom |
| uk | Артрогрипозно-гіперкератозний синдром, летальна форма | Синдром Джонстона-Ааронса-Шеллі |
| zh | 关节挛缩-角化过度综合征，致死型 | Johnston-Aarons-Schelley综合征 |
| tr | Artrogripozis-hiperkeratoz sendromu, letal form | Johnston-Aarons-Schelley sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208158 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0008826 | E | validated | |
| MeSH | C535883 | E | validated | |
| UMLS | C1859710 | E | validated | |
| GARD | 3053 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8213913[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8213913[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1485
- This record as JSON: /data/d/1485.json