Short rib-polydactyly syndrome, Beemer-Langer type
Synonyms: Short rib-polydactyly syndrome type 4
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short rib-polydactyly syndrome, Beemer-Langer type | Short rib-polydactyly syndrome type 4 |
| fr | Syndrome des côtes courtes-polydactylie type Beemer-Langer | Syndrome des côtes courtes-polydactylie type 4 |
| de | Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer | Kurzrippen-Polydaktylie-Syndrom Typ 4 |
| es | Síndrome de costillas cortas-polidactilia tipo Beemer-Langer | Síndrome de polidactilia y costillas cortas tipo 4 |
| it | Sindrome costa corta-polidattilia, tipo Beemer-Langer | Sindrome costa corta-polidattilia, tipo 4 |
| nl | Korte rib - polydactylie-syndroom, Beemer-Langer-type | Korte rib - polydactylie-syndroom type 4 |
| pt | Síndrome costelas curtas-polidactilia, tipo Beemer-Langer | Síndrome costelas curtas-polidactilia tipo 4 |
| pl | Zespół krótkie żebro-polidaktylia typu Beemera i Langera | Zespół krótkie żebro-polidaktylia typu 4 |
| cs | Syndrom zahrnující krátká žebra a polydaktylii, Beemerův-Langerův typ | Syndrom zahrnující krátká žebra a polydaktylii, typ 4 · Syndrom zahrnující krátká žebra a polydaktylii, Beemer-Langerův typ |
| uk | Синдром короткої реберної полідактилії, тип Бімера-Лангера | Синдром полідактилії з короткими ребрами, тип 4 |
| zh | 短肋-多指综合征，Beemer-Langer型 | 短肋-多指综合征4型 |
| tr | Kısa kaburga-polidaktili sendromu, Beemer-Langer tipi | Kısa kaburga-polidaktili sendromu tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269860 | E | validated | |
| ICD-10 | Q77.2 | NTBT | attributed | validated |
| ICD-11 | LD24.B0 | NTBT | index | validated |
| MONDO | 0010024 | E | validated | |
| MeSH | C537599 | E | validated | |
| UMLS | C0432198 | E | validated | |
| GARD | 4832 | 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:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFT122 | Candidate gene tested in | Not yet assessed | HGNC:13556 | ENSG00000163913 | 606045 | 3q21.3-q22.1 | intraflagellar transport 122 | 28370949[PMID] |
| IFT80 | Disease-causing germline mutation(s) in | Assessed | HGNC:29262 | ENSG00000068885 | 611177 | 3q25.33 | intraflagellar transport 80 | 30767363[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 6829599[PMID]_6682288[PMID]_2070548[PMID]_1897578[PMID]_8209908[PMID]_8209908[PMID]_17058284[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6829599[PMID]_6682288[PMID]_2070548[PMID]_1897578[PMID]_8209908[PMID]_8209908[PMID]_17058284[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93268
- This record as JSON: /data/d/93268.json