SIX2-related frontonasal dysplasia
Synonyms: SIX2-related FND
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SIX2-related frontonasal dysplasia | SIX2-related FND |
| fr | Dysplasie frontonasale associée à SIX2 | |
| de | SIX2-assoziierte frontonasale Dysplasie | SIX2-assoziierte FND |
| es | Displasia frontonasal asociada a SIX2 | DFN asociada a SIX2 |
| it | Displasia frontonasale correlata a SIX2 | |
| nl | SIX2-gerelateerde frontonasale dysplasie | SIX2-gerelateerde FND |
| pt | Displasia fronto-nasal SIX2-relacionada | |
| pl | Dysplazja czołowo-nosowa związana z SIX2 | = en |
| cs | SIX2-vázaná frontonazální dysplázie | SIX2-vázaná FND |
| uk | Фронтоназальна дисплазія, повязана з SIX2 | FND, повязані з SIX2 |
| zh | SIX2相关鼻发育不良 | = en |
| tr | SIX2-ilişkili frontonazal displazi | SIX2-ilişkili FND |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| MONDO | 0044628 | E | validated | |
| UMLS | C5567484 | 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:250Frontonasal dysplasia
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 |
|---|---|---|---|---|---|---|---|---|
| SIX2 | Role in the phenotype of | Assessed | HGNC:10888 | ENSG00000170577 | 604994 | 2p21 | SIX homeobox 2 | 26581443[PMID]_27920634[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 26581443[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26581443[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
22 annotations · validated 2018-09-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005453 | Absent/hypoplastic paranasal sinuses | |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | |
| HP:0000455 | Broad nasal tip | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000537 | Epicanthus inversus | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0002693 | Abnormality of the skull base | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000256 | Macrocephaly | |
| HP:0011330 | Metopic synostosis | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005494 | Premature posterior fontanelle closure | |
| HP:0010291 | Prominent palatine ridges | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0000260 | Wide anterior fontanel | |
| Excluded (0%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001263 | Global developmental delay | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26581443[PMID]_10773454[PMID]_7720577[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488437
- This record as JSON: /data/d/488437.json