ORPHA:306542
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Synonyms: ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3 |
| fr | Syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère | Dysplasie fronto-nasale liée à ALX1 · Dysplasie fronto-nasale type 3 |
| de | Fronto-nasale Dysplasie-schwere Mikrophthalmie-Gesichtsspalten-Syndrom | ALX1-abhängige fronto-nasale Dysplasie · Dysplasie, frontonasale, Typ 3 |
| es | Síndrome de displasia frontonasal-microftalmia grave-fisura facial grave | Displasia frontonasal asociada al gen ALX1 · Displasia frontonasal tipo 3 |
| it | Sindrome da displasia frontonasale e grave microftalmia e schisi facciale | Displasia frontonasale ALX1-correlata |
| nl | Frontonasale dysplasie - ernstige microftalmie - ernstige aangezichtsspleet-syndroom | ALX1-gerelateerde frontonasale dysplasie · Frontonasale dysplasie type 3 |
| pt | Síndrome de displasia frontonasal microftalmia grave fenda facial grave | |
| pl | Zespół dysplazja czołowo-nosowa - ciężka mikroftalmia - ciężki rozszczep twarzy | Dysplazja czołowo-nosowa związana z ALX1 |
| cs | Syndrom zahrnující frontonazální dysplázii, těžkou mikroftalmii a těžké faciální rozštěpy | ALX1-vázaná frontonazální dysplázie |
| uk | Синдром фронтоназальної дисплазії-тяжкої мікрофтальмії-тяжкого розщеплення обличчя | Фронтоназальна дисплазія, повязана з ALX1 · Фронтоназальна дисплазія типу 3 |
| zh | 额鼻发育不良-重度小眼畸形-重度面裂综合征 | ALX1基因相关额鼻发育不良 |
| tr | Frontonazal displazi-ağır mikroftalmi-ağır yüz yarığı sendromu | Frontonazal displazi tip 3 · ALX1-ilişkili frontonazal displazi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613456 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0013271 | E | validated | |
| UMLS | C4751077 | 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 (4):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALX1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1494 | ENSG00000180318 | 601527 | 12q21.31 | ALX homeobox 1 | 20451171[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 20451171[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
29 annotations · validated 2018-08-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | |
| HP:0011803 | Bifid nose | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000286 | Epicanthus | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002006 | Facial cleft | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0005466 | Hypoplasia of the frontal bone | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000568 | Microphthalmia | |
| HP:0005258 | Pectoral muscle hypoplasia/aplasia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000508 | Ptosis | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000349 | Widow's peak | |
| Occasional (29-5%) | ||
| HP:0004423 | Cranium bifidum occultum | |
| HP:0001249 | Intellectual disability | |
| HP:0006931 | Pericallosal lipoma | |
| HP:0001636 | Tetralogy of Fallot | |
Annotation source: 20451171[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306542
- This record as JSON: /data/d/306542.json