FGFR2-related bent bone dysplasia
Synonyms: Perinatal lethal bent bone dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FGFR2-related bent bone dysplasia | Perinatal lethal bent bone dysplasia |
| fr | Dysplasie osseuse avec incurvation des membres liée à FGFR2 | Dysplasie osseuse avec incurvation des membres périnatale létale |
| de | FGFR2-abhängige Dysplasie mit gekrümmten Knochen | Dysplasie mit gekrümmten Knochen, letale perinatale Form |
| es | Displasia con huesos incurvados asociada al gen FGFR2 | |
| it | Displasia con incurvamento delle ossa correlata a FGFR2 | Displasia con incurvamento delle ossa letale perinatale · Displasia letale perinatale con incurvamento delle ossa |
| nl | FGFR2-gerelateerde gebogen botdysplasie | Perinatale letale gebogen botdysplasie |
| pt | Displasia de encurvamento ósseo FGFR2-relacionada | Displasia de encurvamento ósseo letal perinatal |
| pl | Dysplazja wygiętych kości związana z FGFR2 | Prenatalna śmiertelna dysplazja wygiętych kości |
| cs | FGFR2-vázaná dysplázie s pokřivenými dlouhými kostmi | Perinatální letální dysplázie s pokřivenými dlouhými kostmi |
| uk | FGFR2-залежна дисплазія зігнутих кісток | Перинатальна летальна дисплазія зігнутих кісток |
| zh | FGFR2基因相关性弯曲骨发育不良综合征 | 围产期致命性弯曲骨发育不良 |
| tr | FGFR2-ilişkili bükülmüş kemik displazisi | Perinatal letal bükülmüş kemik displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614592 | E | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | attributed | validated |
| MONDO | 0013815 | E | validated | |
| UMLS | C4755261 | E | validated | |
| GARD | 10965 | 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 (2):
- ORPHA:93439Campomelic dysplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 22387015[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 27240702[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27240702[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
27 annotations · validated 2016-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030313 | Abnormal periosteum morphology | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0001156 | Brachydactyly | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0005474 | Decreased calvarial ossification | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001007 | Hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0030042 | Incomplete ossification of pubis | |
| HP:0000369 | Low-set ears | |
| HP:0000485 | Megalocornea | |
| HP:0011223 | Metopic depression | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000695 | Natal tooth | |
| HP:0000938 | Osteopenia | |
| HP:0004453 | Overfolding of the superior helices | |
| HP:0000894 | Short clavicles | |
| HP:0010455 | Steep acetabular roof | |
| Occasional (29-5%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002979 | Bowing of the legs | |
| HP:0001433 | Hepatosplenomegaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22387015[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313855
- This record as JSON: /data/d/313855.json