Frontorhiny
Synonyms: ALX3-related frontonasal dysplasia · Frontonasal dysplasia type 1 · Isolated median cleft face syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontorhiny | ALX3-related frontonasal dysplasia · Frontonasal dysplasia type 1 · Isolated median cleft face syndrome |
| fr | Frontorhinie | Dysplasie fronto-nasale liée à ALX3 · Dysplasie fronto-nasale type 1 · Syndrome de la fente faciale médiane, forme isolée |
| de | Frontorhinie | ALX-3-abhängige fronto-nasale Dysplasie · ALX-3-abhängige frontonasale Dysplasie · Dysplasie, fronto-nasale, Typ 1 · Dysplasie, frontonasale, Typ 1 · Syndrom der isolierten medianen Gesichtsspalte |
| es | Frontorrinia | Displasia frontonasal asociada a ALX-3 · Displasia frontonasal tipo 1 · Síndrome aislado de fisura media del rostro |
| it | Frontorinia | Displasia frontonasale ALX-3-correlata · Sindrome da schisi mediana isolata |
| nl | Frontorhinie | ALX-3-gerelateerde frontonasale dysplasie · Frontonasale dysplasie type 1 · Geïsoleerde mediane aangezichtsspleet-syndroom |
| pt | Displasia frontonasal isolada | |
| pl | Frontorinia (dysplazja czołowo-nosowa) | Dysplazja czołowo-nosowa zależna od ALX3 · Izolowany zespół rozszczepu pośrodkowego |
| cs | Frontorhinie | ALX3-vázaná frontonazální dysplázie · Syndrom izolovaného mediánního rozštěpu |
| uk | Фронторинія | Фронтоназальна дисплазія, повязана з ALX3 · Фронтоназальна дисплазія типу 1 · Синдром ізольованого серединного розщеплення обличчя |
| zh | 额鼻部发育不良1型 | 孤立性面部正中裂综合征 |
| tr | Frontorini | Frontonazal displazi tip 1 · ALX3-ilişkili frontonazal displazi · İzole medyan yarık yüz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136760 | E | validated | |
| ICD-10 | Q75.1 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | attributed | validated |
| MONDO | 0007636 | E | validated | |
| UMLS | C5574965 | 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 (3):
- ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:414726Genetic facial cleft
rare genetic diseases - ORPHA:141234Median facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALX3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:449 | ENSG00000156150 | 606014 | 1p13.3 | ALX homeobox 3 | 19409524[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
29 annotations · validated 2018-08-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0011817 | Basal encephalocele | |
| HP:0010297 | Bifid tongue | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0008591 | Congenital conductive hearing impairment | |
| HP:0004423 | Cranium bifidum occultum | |
| HP:0025247 | Dermoid cyst | |
| HP:0002084 | Encephalocele | |
| HP:0000286 | Epicanthus | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002738 | Hypoplastic frontal sinuses | |
| HP:0000612 | Iris coloboma | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000568 | Microphthalmia | |
| HP:0004112 | Midline nasal groove | |
| HP:0006931 | Pericallosal lipoma | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0000349 | Widow's peak | |
| Occasional (29-5%) | ||
| HP:0000873 | Diabetes insipidus | |
| HP:0040075 | Hypopituitarism | |
Annotation source: 19409524[PMID]_9689987[PMID]_17955515[PMID]_5444583[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391474
- This record as JSON: /data/d/391474.json