Parietal foramina with clavicular hypoplasia
Synonyms: Parietal foramina with cleidocranial dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parietal foramina with clavicular hypoplasia | Parietal foramina with cleidocranial dysplasia |
| fr | Foramen pariétal avec hypoplasie claviculaire | Foramen pariétal avec dysplasie cléido-crânienne |
| de | Foramina parietalia mit Klavikulahypoplasie | Foramina parietalia mit kleidokranialer Dysplasie |
| es | Foramina parietal con hipoplasia clavicular | Foramina parietal con displasia cleidocraneal |
| it | Foramina parietalia, con ipoplasia della clavicola | Foramina parietalia con disostosi cleidocranica |
| nl | Foramina parietalia met hypoplasie van clavicula | Foramina parietalia met cleidocraniale dysplasie · Foramina parietalia met hypoplasie van sleutelbeen |
| pt | Foramina parietal com hipoplasia clavicular | Foramina parietal com displasia cleidocraniana |
| pl | Otwór ciemeniowy z dysplazją obojczykowo-czaszkową | Otwór ciemeniowy z dyzostozą obojczykowo-czaszkową |
| cs | Parietální foramina s kleidokraniální dysplázií | Parietální foramina s kleidokraniální dysostózou |
| uk | Тімяні отвори з гіпоплазією ключиці | Тімяні отвори при клишоногій дисплазії |
| zh | 顶骨发育不全伴锁骨发育不良 | 顶骨孔伴锁骨颅骨发育不良 |
| tr | Klaviküler hipoplazi ile seyreden parietal foramen | Kleidokraniyal displazi ile seyreden parietal foramina |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168550 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB70.Y | NTBT | attributed | validated |
| MONDO | 0008198 | E | validated | |
| MeSH | C566825 | E | validated | |
| UMLS | C1868597 | 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:93451Cleidocranial dysplasia and isolated cranial ossification defect
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 |
|---|---|---|---|---|---|---|---|---|
| MSX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7392 | ENSG00000120149 | 123101 | 5q35.2 | msh homeobox 2 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 14571277[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14571277[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251290
- This record as JSON: /data/d/251290.json