Jung syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jung syndrome | |
| fr | Syndrome de Jung | |
| de | Jung-Wolff-Back-Stahl-Syndrom | |
| es | Síndrome de Jung | |
| it | Sindrome di Jung | |
| nl | Syndroom van Jung | |
| pt | Síndrome Jung-Wolff-Back-Stahl | |
| pl | Zespół Junga, Wolffa, Backa i Stahla | |
| cs | Jungův-Wolffův-Backův-Stahlův syndrom | |
| uk | Синдром Юнга | |
| zh | Jung综合征 | |
| tr | Jung sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601427 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0011078 | E | validated | |
| MeSH | C537694 | E | validated | |
| UMLS | C1275130 | E | validated | |
| GARD | 3062 | 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:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine 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 | 7537583[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7537583[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000958 | Dry skin | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000311 | Round face | |
| HP:0002777 | Tracheal stenosis | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000506 | Telecanthus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2321
- This record as JSON: /data/d/2321.json