ORPHA:60015
Enlarged parietal foramina
Synonyms: Catlin marks · Fenestrae parietales symmetricae · Foramina parietalia permagna · Hereditary cranium bifidum · Symmetric parietal foramina
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Enlarged parietal foramina | Catlin marks · Fenestrae parietales symmetricae · Foramina parietalia permagna · Hereditary cranium bifidum · Symmetric parietal foramina |
| fr | Lacunes pariétales | Crâne bifide héréditaire · Fenestrae parietales symmetricae · Foramina parietalia permagna · Marques de Catlin · Trous pariétaux |
| de | Foramina parietalia, vergrößerte | Catlin-marks · Cranium bifidum, hereditäres · FPP · Fenestrae parietales symmetricae · Foramina parietalia permagna · Foramina parietalia, symmetrische |
| es | Foramina parietal ampliada | Cráneo bífido hereditario · Fenestrae parietales symmetricae · Foramina parietal simétrica · Foramina parietalia permagna · Marcas de Catlin |
| it | Forami parietali allargati | Cranio bifido ereditario · Fenestrae parietales symmetricae · Forami parietali simmetrici · Foramina parietalia permagna · Segni di Catlin |
| nl | Vergrote foramina parietalia | Catlin-markeringen · Erfelijk cranium bifidum · Fenestrae parietales symmetricae · Foramina parietalia permagna · Symmetrische foramina parietalia |
| pt | Foramina parietal | Foramina parietal permagna |
| pl | Powiększony otwór ciemieniowy | Dziedziczny rozszczep czaszki · Fenestrae parietales symmetricae · Symetryczny otwór ciemieniowy |
| cs | Zvětšení foramina parietalia | Fenestrae parietales symmetricae · Foramina parietalia permagna · Hereditární cranium bifidum · Symetrická foramina parietalia · Catlinovy značky |
| uk | Розширені тімяні отвори | Катлінські знаки · Симетричні тімяні перегородки · Тімяно-скроневий отвір (Foramina parietalia permagna) · Спадковий біфідум черепа · Симетричні тімяні отвори |
| zh | 大顶骨孔 | 增大顶骨孔 |
| tr | Genişlemiş parietal foramina | Catlin işaretleri · Kalıtsal kafatası bifidum · Simetrik pariyetal foramina · Foramina parietalia permagna · Fenestra pariyetales simetrika |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168500 | E | validated | |
| OMIM | 609566 | BTNT | validated | |
| OMIM | 609597 | BTNT | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LB70.Y | NTBT | attributed | validated |
| MONDO | 0018953 | E | validated | |
| MONDO | 18953 | E | validated | |
| UMLS | C1868598 | 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 (2):
- ORPHA:93451Cleidocranial dysplasia and isolated cranial ossification defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183542Genetic cranial malformation
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALX4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:450 | ENSG00000052850 | 605420 | 11p11.2 | ALX homeobox 4 | 16319823[PMID] |
| MSX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7392 | ENSG00000120149 | 123101 | 5q35.2 | msh homeobox 2 | 16319823[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.3 / 100 000 | Europe | Value and class | Validated | 23543411[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Worldwide | Value and class | Validated | 23543411[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.
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HPO phenotypes
20 annotations · validated 2020-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002697 | Parietal foramina | |
| Occasional (29-5%) | ||
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0002315 | Headache | |
| HP:0100809 | Scalp tenderness | |
| HP:0012721 | Venous malformation | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0012480 | Abnormality of cerebral veins | |
| HP:0007385 | Aplasia cutis congenita of scalp | |
| HP:0011304 | Broad thumb | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0008497 | Congenital craniofacial dysostosis | |
| HP:0001363 | Craniosynostosis | |
| HP:0040197 | Encephalomalacia | |
| HP:0001249 | Intellectual disability | |
| HP:0002762 | Multiple exostoses | |
| HP:0002475 | Myelomeningocele | |
| HP:0002085 | Occipital encephalocele | |
| HP:0001250 | Seizure | |
| HP:0000894 | Short clavicles | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23207976[PMID]_25253662[PMID]_20301307[PMID]_27975139[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60015
- This record as JSON: /data/d/60015.json