Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Synonyms: Suarez-Stickler syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | Suarez-Stickler syndrome |
| fr | Dysplasie squelettique avec os wormien-fractures multiples-dentinogenèse imparfaite | Syndrome de Suarez-Stickler |
| de | Wormsche Knochen-multiplen Frakturen-Dentinogenesis imperfecta-Skelettdysplasie-Syndrom | Suarez-Stickler-Syndrom |
| es | Displasia esquelética con huesos wormianos-fracturas múltiples-dentinogénesis imperfecta | Síndrome de Suarez-Stickler |
| it | Displasia scheletrica con ossa wormiane - fratture multiple - dentinogenesi imperfetta | Sindrome di Suarez-Stickler |
| nl | Wormiaanse botstructuren - meervoudige fracturen - dentinogenesis imperfecta - skeletdysplasie | Syndroom van Suarez-Stickler |
| pt | Displasia esquelética com ossos vormianos-fraturas múltiplas-dentinogénese imperfeita | Síndrome Suarez-Stickler |
| pl | Zespół Suareza i Sticklera | Dysplazja szkieletowa z kostkami Worma - wielokrotne złamania-nieprawidłowości zębiny |
| cs | Kostní dysplázie s wormiánskými kůstkami, mnohočetnými zlomeninami a dentinogenesis imperfecta | Suarezův-Sticklerův syndrom · Suarez-Sticklerův syndrom |
| uk | Червоподібні кістки-множинні переломи-недосконалий дентиногенез - скелетна дисплазія | Синдром Суареса-Стиклера |
| zh | Wormian 多发性骨折-牙本质发育不全-骨骼发育不良综合征 | Suarez-Stickle综合征 |
| tr | Solucan kemiği-çoklu kırıklar-dentinogenezis imperfekta-iskelet displazisi | Suarez-Stickler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604922 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0011501 | E | validated | |
| UMLS | C4518794 | E | validated | |
| GARD | 10290 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:180766Malformative syndrome with dentinogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare odontological diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
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 | 3 cases | Worldwide | Case(s) | Validated | 10544232[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10544232[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011120 | Concave nasal ridge | |
| HP:0000703 | Dentinogenesis imperfecta | |
| Frequent (79-30%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000268 | Dolichocephaly | |
| HP:0000316 | Hypertelorism | |
| HP:0002756 | Pathologic fracture | |
| HP:0000629 | Periorbital fullness | |
| HP:0004322 | Short stature | |
| HP:0009824 | Upper limb undergrowth | |
| HP:0002645 | Wormian bones | |
| Occasional (29-5%) | ||
| HP:0001376 | Limitation of joint mobility | |
| HP:0001773 | Short foot | |
| HP:0001863 | Toe clinodactyly | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166277
- This record as JSON: /data/d/166277.json