Craniometadiaphyseal dysplasia, wormian bone type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniometadiaphyseal dysplasia, wormian bone type | |
| fr | Dysplasie cranio-métadiaphysaire type os wormien | |
| de | Dysplasie, kraniometadiaphysäre, Schaltknochen-Typ | |
| es | Displasia craneometadiafisaria, tipo hueso wormiano | |
| it | Displasia craniometafisaria, tipo con ossa wormiane | |
| nl | Craniometadiafysaire dysplasie, Wormiaans bot-type | |
| pt | Displasia craniometadiafisária, tipo ossos wormianos | |
| pl | Dysplazja czaszkowo-przynasadowa, typ kostek Worma | |
| cs | Kraniometadiafyzární dysplázie, typ s wormiánskými kůstkami | |
| uk | Краніометадіафізарна дисплазія, червоподібний тип кісток | |
| zh | 颅骨骨板发育不良，虫蚀型 | |
| tr | Kraniyometadiyafizer displazi, wormian kemik tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269300 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0010014 | E | validated | |
| UMLS | C4510809 | 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:93444Primary bone dysplasia with increased 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 | 4 cases | Worldwide | Case(s) | Validated | 20684007[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20684007[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
26 annotations · validated 2017-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:0002703 | Abnormality of skull ossification | |
| HP:0006429 | Broad femoral neck | |
| HP:0000885 | Broad ribs | |
| HP:0002673 | Coxa valga | |
| HP:0002212 | Curly hair | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0005446 | Obtuse angle of mandible | |
| HP:0000938 | Osteopenia | |
| HP:0006391 | Overtubulated long bones | |
| HP:0000242 | Parietal bossing | |
| HP:0011220 | Prominent forehead | |
| HP:0000520 | Proptosis | |
| HP:0001248 | Short tubular bones of the hand | |
| HP:0002753 | Thin bony cortex | |
| HP:0010539 | Thin calvarium | |
| HP:0008438 | Vertebral arch anomaly | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0002645 | Wormian bones | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9605592[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85184
- This record as JSON: /data/d/85184.json