Arthrogryposis-ectodermal dysplasia syndrome
historical
Synonyms: Stoll-Alembik-Finck syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-ectodermal dysplasia syndrome | Stoll-Alembik-Finck syndrome |
| fr | Syndrome d'arthrogrypose-dysplasie ectodermique | Syndrome de Stoll-Alembik-Finck |
| de | Arthrogrypose-ektodermale Dysplasie-Syndrom | Stoll-Alembik-Finck-Syndrom |
| es | Síndrome de artrogriposis-displasia ectodérmica-otras anomalías | Síndrome de Stoll-Alembik-Finck |
| it | Artrogriposi - displasia ectodermica - altre anomalie | |
| nl | Artrogrypose - ectodermale dysplasie - andere anomalieën-syndroom | Syndroom van Stoll-Alembik-Finck |
| pt | Síndrome de artrogripose-displasia ectodérmica | Síndrome Stoll-Alembik-Finck |
| pl | Zespół Stolla, Alembika i Fincka | Artrogrypoza - dysplazja ektodermalna - inne wady |
| cs | Stollův-Alembikův-Finckův syndrom | Syndrom zahrnující artrogrypózu, ektodermální dysplázii a jiné anomálie · Stoll-Alembik-Finckův syndrom |
| uk | Синдром артрогрипозу-ектодермальної дисплазії | Синдром Штолля-Алембіка-Фінка |
| zh | 关节挛缩-外胚层发育异常综合征 | Stoll-Alembik-Finck综合征 |
| tr | Artrogripozis-ektodermal displazi sendromu | Stoll-Alembik-Finck sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601701 | NTBT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0044406 | E | validated | |
| MONDO | 44406 | E | validated | |
| UMLS | C5191837 | E | validated | |
| GARD | 5029 | 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 (2):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3354OBSOLETE: Tricho-oculo-dermo-vertebral syndrome referred to · inactive
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 | 1590979[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1590979[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/3200
- This record as JSON: /data/d/3200.json