Acromelic frontonasal dysplasia
Synonyms: AFND · Acromelic frontonasal dysostosis · Toriello syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromelic frontonasal dysplasia | AFND · Acromelic frontonasal dysostosis · Toriello syndrome |
| fr | Dysplasie frontonasale acromélique | Dysostose fronto-nasale acromélique · Syndrome de Toriello |
| de | Dysplasie, akromele frontonasale | AFND · Dysostose, akromele frontonasale · Toriello-Syndrom |
| es | Displasia frontonasal acromélica | DFNA · Disostosis frontonasal acromélica · Síndrome de Toriello |
| it | Displasia frontonasale acromelica | Sindrome di Toriello |
| nl | Acromelische frontonasale dysplasie | AFND · Acromelische frontonasale dysostose · Syndroom van Toriello |
| pt | Displasia fronto-nasal acromélica | AFND · Disostose fronto-nasal acromélica · Síndrome Toriello |
| pl | Kończynowa dysplazja czołowo-nosowa | Zespół Toriello · AFND · Zespół Toriello · Kończynowa dyzostoza czołowo-nosowa |
| cs | Akromelická frontonazální dysplázie | Toriellové syndrom |
| uk | Акромелічна лобно-носова дисплазія | Акромелічний лобно-носовий дизостоз · AFND · Синдром Торіелло |
| zh | 肢端额鼻发育不良 | 肢端额鼻骨发育不全 |
| tr | Akromelik frontonazal displazi | AFND · Toriello sendromu · Akromelik frontonazal dizostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603671 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | index | validated |
| MONDO | 0011359 | E | validated | |
| MeSH | C535657 | E | validated | |
| UMLS | C0796182 | E | validated | |
| GARD | 5539 | 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 (4):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZSWIM6 | Disease-causing germline mutation(s) in | Assessed | HGNC:29316 | ENSG00000130449 | 615951 | 5q12.1 | zinc finger SWIM-type containing 6 | 25105228[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 15264282[PMID]_25105228[PMID]_26706854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15264282[PMID]_25105228[PMID]_26706854[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
37 annotations · validated 2018-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0002056 | Abnormality of the glabella | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000456 | Bifid nasal tip | |
| HP:0011803 | Bifid nose | |
| HP:0000248 | Brachycephaly | |
| HP:0000455 | Broad nasal tip | |
| HP:0002084 | Encephalocele | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000239 | Large fontanelles | |
| HP:0009099 | Median cleft palate | |
| HP:0002435 | Meningocele | |
| HP:0006866 | Midline central nervous system lipomas | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| HP:0009928 | Thick nasal alae | |
| Frequent (79-30%) | ||
| HP:0002190 | Choroid plexus cyst | |
| HP:0040326 | Hypoplasia of the olfactory bulb | |
| HP:0000161 | Median cleft lip | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0000028 | Cryptorchidism | |
| HP:0040075 | Hypopituitarism | |
| HP:0002690 | Large sella turcica | |
| HP:0000545 | Myopia | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0000508 | Ptosis | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0001250 | Seizure | |
| HP:0002781 | Upper airway obstruction | |
| HP:0000154 | Wide mouth | |
| Very rare (<4-1%) | ||
| HP:0025247 | Dermoid cyst | |
| HP:0000501 | Glaucoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1733166[PMID]_25105228[PMID]_26706854[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1827
- This record as JSON: /data/d/1827.json