ORPHA:1937
Eng-Strom syndrome
historical
Synonyms: Short stature-locking fingers syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- historical
A rare malformation syndrome with short stature characterized by intrauterine growth retardation and intermittent locking of the finger joints. Ventricular septal defect can also be present. There have been no further descriptions in the literature since 1987.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eng-Strom syndrome | Short stature-locking fingers syndrome |
| fr | Syndrome d'Eng-Strom | Syndrome de nanisme-doigts bloqués |
| de | Eng-Strom-Syndrom | Kleinwuchs - Fingerklemme |
| es | Síndrome de Eng-Strom | Enanismo-dedos bloqueados |
| it | Sindrome di Eng-Strom | Nanismo - dita bloccate |
| nl | Syndroom van Eng-Strom | Kleine gestalte - springvingers-syndroom · kleine gestalte - springvingers |
| pt | Síndrome Eng-Strom | Baixa estatura-dedos em gatilho |
| pl | Zespół Enga i Stroma | Short stature - locking fingers |
| cs | Engové-Stromův syndrom | Locking-fingers syndrom s malým vzrůstem · Eng-Stromův syndrom |
| uk | Синдром Енга-Строма | Синдром низького зросту та блокування суглобів пальців |
| zh | Eng-Strom综合征 | 身材矮小-指交锁综合征 |
| tr | Eng-Strom sendromu | Kısa boy-kilitli parmak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135950 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0007618 | E | validated | |
| UMLS | C4512073 | 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 (2):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3812565[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3812565[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.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001369 | Arthritis | |
| HP:0001156 | Brachydactyly | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0001629 | Ventricular septal defect | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1937
- This record as JSON: /data/d/1937.json