Thin ribs-tubular bones-dysmorphism syndrome
historical
Synonyms: Sharma-Kapoor-Ramji syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thin ribs-tubular bones-dysmorphism syndrome | Sharma-Kapoor-Ramji syndrome |
| fr | Syndrome de côtes fines-os tubulaires fins-dysmorphie | Syndrome de Sharma-Kapoor-Ramji |
| de | Dünne Rippen und Röhrenknochen-Dysmorphie-Syndrom | Sharma-Kapoor-Ramji-Syndrom |
| es | Síndrome de costillas delgadas-dismorfia-huesos tubulares | Síndrome de Sharma-Kapoor-Ramji |
| it | Sindrome da costole e ossa tubulari sottili e dismorfismi | Sindrome di Sharma-Kapoor-Ramji |
| nl | Dunne ribben - kokervormige botten - dysmorfie-syndroom | Syndroom van Sharma-Kapoor-Ramji |
| pt | Síndrome de costelas finas-ossos tubulares-dismorfia | Síndrome Sharma-Kapoor-Ramji |
| pl | Zespół cienkich żeber, rurowatych kości i dysmorfii | Zespół Sharma, Kapoor i Ramji |
| cs | Syndrom zahrnující tenká žebra, lamelární kosti a dysmorfismus | Sharma-Kapoor-Ramji syndrom |
| uk | Синдром дисморфізму тонких реберно-трубчастих кісток | Синдром Шарма-Капура-Рамджі |
| zh | 薄肋-管状骨-外貌畸形综合征 | Sharma-Kapoor-Ramji综合征 |
| tr | İnce kaburga-tübüler kemikler-dismorfizm sendromu | Sharma-Kapoor-Ramji sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | attributed | validated |
| MONDO | 0015462 | E | validated | |
| MeSH | C537595 | E | validated | |
| UMLS | C2931543 | 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 (1):
- ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 2400886[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2400886[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002007 | Frontal bossing | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000256 | Macrocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003100 | Slender long bone | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1506
- This record as JSON: /data/d/1506.json