ORPHA:3317
Thoracolaryngopelvic dysplasia
Synonyms: Barnes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thoracolaryngopelvic dysplasia | Barnes syndrome |
| fr | Dysplasie thoraco-laryngo-pelvienne | Syndrome de Barnes |
| de | Dysostose, thorakopelvine | Barnes-Syndrom · Thorax-Larynx-Becken-Dysplasie |
| es | Displasia toraco-laringo-pélvica | Disostosis toraco-pélvica |
| it | Displasia toraco-laringo-pelvica | Sindrome di Barnes |
| nl | Thoracolaryngopelviene dysplasie | Syndroom van Barnes |
| pt | Displasia toraco-laringo-pélvica | Síndrome Barnes |
| pl | Dysplazja piersiowo-krtaniowo-miedniczna | Zespół Barnesa |
| cs | Torakolaryngopelvická dysplázie | Barnesův syndrom |
| uk | Тораколаринго-тазова дисплазія | Синдром Барнса |
| zh | 胸喉盆腔发育不良 | Barnes综合征 |
| tr | Torakolaringopelvik displazi | Barnes sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187760 | BTNT | validated | |
| OMIM | 187770 | E | validated | |
| ICD-10 | Q77.2 | NTBT | attributed | validated |
| ICD-11 | LD24.BY | NTBT | index | validated |
| MONDO | 0008551 | E | validated | |
| MeSH | C536517 | E | validated | |
| UMLS | C1861197 | 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 (4):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
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 |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3317
- This record as JSON: /data/d/3317.json