Subaortic stenosis-short stature syndrome
historical
Synonyms: Onat syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Subaortic stenosis-short stature syndrome | Onat syndrome |
| fr | Syndrome de sténose subaortique-petite taille | Syndrome d'Onat |
| de | Subaortenstenose-Kleinwuchs-Syndrom | Onat-Syndrom |
| es | Síndrome de estenosis subaórtica-talla baja | |
| it | Stenosi sottoaortica con bassa statura | |
| nl | Subaortastenose - kleine gestalte-syndroom | Syndroom van Onat |
| pt | Síndrome de estenose sub-aórtica-baixa estatura | Síndrome Onat |
| pl | Zwężenie podaortalne -niski wzrost | Zespół Onata |
| cs | Syndrom zahrnující subaortickou stenózu a malý vzrůst | Onatův syndrom |
| uk | Синдром низькорослості-субаортального стенозу | Синдром Оната |
| zh | 主动脉瓣下狭窄-矮小综合征 | Onat综合征 |
| tr | Subaortik stenoz-kısa boy sendromu | Onat sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271960 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0010082 | E | validated | |
| MeSH | C537749 | E | validated | |
| UMLS | C0795947 | E | validated | |
| GARD | 405 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; 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 | 1 families | Worldwide | Family(ies) | Validated | 573203[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_573203[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008777 | Abnormal vocal cord morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000463 | Anteverted nares | |
| HP:0011675 | Arrhythmia | |
| HP:0005174 | Membranous subvalvular aortic stenosis | |
| HP:0004322 | Short stature | |
| HP:0001682 | Subvalvular aortic stenosis | |
| Frequent (79-30%) | ||
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0001513 | Obesity | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0001061 | Acne | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001080 | Biliary tract abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0001249 | Intellectual disability | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0005978 | Type II diabetes mellitus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3191
- This record as JSON: /data/d/3191.json