ORPHA:2899
Brachyolmia-amelogenesis imperfecta syndrome
Synonyms: Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachyolmia-amelogenesis imperfecta syndrome | Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome |
| fr | Syndrome de brachyolmie-amélogenèse imparfaite | Syndrome de Verloes-Bourguignon · Syndrome de platispondylie-amélogenèse imparfaite |
| de | Brachyolmie-Amelogenesis imperfecta-Syndrom | Platyspondylie - Amelogenesis imperfecta · Verloes-Bourguignon-Syndrom |
| es | Síndrome de braquiolmia-amelogénesis imperfecta | Platispondilia-amelogénesis imperfecta · Síndrome de Verloes-Bourguignon |
| it | Brachiolmia - amelogenesi imperfetta | Platispondilia - amelogenesi imperfetta · Sindrome di Verloes-Bourguignon |
| nl | Brachyolmie - amelogenesis imperfecta-syndroom | Platyspondylie - amelogenesis imperfecta-syndroom · Syndroom van Verloes-Bourguignon |
| pt | Síndrome de braquiolmia-amelogénese imperfeita | Síndrome Verloes-Bourguignon · Síndrome de platispondilia-amelogénese imperfeita |
| pl | Brachyolmia - amelogenesis imperfecta | platyspondylia - amelogenesis imperfecta · Zespół Verloesa i Bourguignona |
| cs | Syndrom zahrnující brachyolmii a amelogenesis imperfecta | Syndrom zahrnující platyspondylii a amelogenesis imperfecta · Verloesův-Bourguignonův syndrom · Verloes-Bourguignonův syndrom |
| uk | Синдром брахіолмії - недосконалого амелогенезу | Синдром платиспондилії- недосконалого амелогенезу · Синдром Верлоеса-Бургіньйона |
| zh | 短躯干-釉质形成缺陷综合征 | 扁平椎-釉质形成不全综合征 |
| tr | Brakiyolmi-amelogenezis imperfekta sendromu | Verloes-Bourguignon sendromu · Platispondili-amelogenezis imperfekta sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601216 | E | validated | |
| ICD-10 | Q76.3 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0011018 | E | validated | |
| MeSH | C536538 | E | validated | |
| UMLS | C1832594 | E | validated | |
| GARD | 5478 | 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 (3):
- ORPHA:1293Brachyolmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LTBP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6716 | ENSG00000168056 | 602090 | 11q13.1 | latent transforming growth factor beta binding protein 3 | 25669657[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 8721563[PMID]_19213025[PMID]_19344874[PMID]_25899461[PMID]_ 25669657[PMID]_26511208[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8721563[PMID]_19213025[PMID]_19344874[PMID]_25899461[PMID]_ 25669657[PMID]_26511208[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.
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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/2899
- This record as JSON: /data/d/2899.json