ORPHA:228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Synonyms: ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism · Frontonasal dysplasia type 2 · Frontonasal dysplasia with alopecia and genital abnomality
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontonasal dysplasia-alopecia-genital anomalies syndrome | ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism · Frontonasal dysplasia type 2 · Frontonasal dysplasia with alopecia and genital abnomality |
| fr | Syndrome de dysplasie frontonasale-alopécie-anomalies génitales | Dysplasie fronto-nasale type 2 · FNDAG associée à ALX4 · Syndrome de dysplasie cranio-fronto-nasale-alopécie-hypogonadisme |
| de | Frontonasale Dysplasie-Alopezie-Genitalanomalien-Syndrom | ALX4-abhängige FNDAG · Fronto-nasale Dysplasie Typ 2 · Fronto-nasale Dysplasie mit Alopezie und Genitalfehlbildungen · Kranio-fronto-nasale Dysplasie mit Alopezie und Hypogonadismus |
| es | Síndrome de displasia frontonasal-alopecia-anomalías genitales | Displasia craneofrontonasal con alopecia e hipogonadismo · Displasia frontonasal con alopecia y anomalías genitales · Displasia frontonasal tipo 2 · FNDAG asociado a ALX4 |
| it | Displasia frontonasale - alopecia - anomalia dei genitali | Displasia cranio-fronto-nasale con alopecia e ipogonadismo · Displasia frontonasale con alopecia e anomalie genitali · FNDAG associata a ALX4 |
| nl | Frontonasale dysplasie - alopecie - genitale anomalieën-syndroom | ALX4-gerelateerde FNDAG · Craniofrontonasale dysplasie met alopecie en hypogonadisme · Frontonasale dysplasie met alopecie en genitale afwijking · Frontonasale dysplasie type 2 |
| pt | Síndrome de displasia frontonasal-alopecia-anomalias genitais | FNDAG ALX4-relacionada · Displasia craniofrontonasal com alopecia e hipogonadismo · Displasia frontonasal e anomalia genital · Displasia frontonasal tipo 2 |
| pl | Dysplazja czołowo-nosowa z łysieniem i wadą narządów płciowych | Dysplazja czaszkowo-czołowo-nosowa z łysieniem i hipogonadyzmem · Dysplazja czołowo-nosowa z łysieniem i nieprawidłowością narządów płciowych · FNDAG ziązane z ALX4 |
| cs | Frontonazální dysplázie s alopecií a anomálií genitálu | ALX4-vázaná FNDAG · Kraniofrontonazální dysplázie s alopecií a hypogonadismem · Frontonazální dysplázie s alopecií a abnormalitou genitálu |
| uk | Синдром лобно-носової дисплазії-алопеції-генітальних аномалій | FNDAG, повязані з ALX4 · Краніофронтоносальна дисплазія з алопецією та гіпогонадизмом · Фронтоназальна дисплазія 2 типу · Фронтоназальна дисплазія з алопецією та аномалією статевих органів |
| zh | 额鼻发育不良-脱发-生殖器异常综合征 | 额鼻发育不良伴脱发和性腺功能减退症 |
| tr | Frontonazal displazi-alopesi-genital anomaliler sendromu | ALX4-ilişkili FNDAG · Frontonazal displazi tip 2 · Alopesi ve hipogonadizm ile seyreden kraniyofrontonazal displazi · Alopesi ve genital anormallik ile seyreden frontonazal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613451 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0013268 | E | validated | |
| UMLS | C4510728 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:481771Genetic alopecia
rare genetic 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 - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:450 | ENSG00000052850 | 605420 | 11p11.2 | ALX homeobox 4 | 23401352[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24668755[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.
6
HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000463 | Anteverted nares | |
| HP:0011803 | Bifid nose | |
| HP:0000248 | Brachycephaly | |
| HP:0000289 | Broad philtrum | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002084 | Encephalocele | |
| HP:0000316 | Hypertelorism | |
| HP:0000135 | Hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000639 | Nystagmus | |
| HP:0001362 | Skull defect | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0002335 | Agenesis of cerebellar vermis | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000698 | Conical tooth | |
| HP:0002213 | Fine hair | |
| HP:0002007 | Frontal bossing | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000568 | Microphthalmia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000046 | Small scrotum | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19692347[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228390
- This record as JSON: /data/d/228390.json