ORPHA:245
Nager syndrome
Synonyms: Mandibulofacial dysostosis with preaxial limb anomalies · NAFD · Nager acrofacial dysostosis · Preaxial acrodysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nager syndrome | Mandibulofacial dysostosis with preaxial limb anomalies · NAFD · Nager acrofacial dysostosis · Preaxial acrodysostosis |
| fr | Syndrome de Nager | Acrodysostose préaxiale · Dysostose acrofaciale de Nager · Dysostose mandibulo-faciale avec anomalies préaxiales des extrémités · NAFD |
| de | Nager-Syndrom | Akrodysostose, präaxiale · Dysostose, akrofaziale, Typ Nager · Mandibulofaziale Dysostose mit präaxialen Gliedmaßenanomalien · NAFD |
| es | Síndrome de Nager | Acrodisostosis preaxial · Disostosis acrofacial de Nager · Disostosis mandibulofacial con anomalías de las extremidades preaxiales · NAFD |
| it | Sindrome di Nager | Acrodisostosi preassiale · Disostosi acrofacciale di Nager · Disostosi mandibolofacciale con anomalie preassiali degli arti · NAFD |
| nl | Syndroom van Nager | Acrofaciale dysostose van Nager · Mandibulofaciale dysostose met preaxiale ledemaatanomalieën · NAFD · Preaxiale acrodysostose |
| pt | Síndrome Nager | Disostose acro-facial, tipo Nager |
| pl | Zespół Nagera | Dyzostoza kończynowo-twarzowa Nagera · Dyzostoza żuchwowo-twarzowa z przedosiowymi wadami kończyn · NAFD · Przedosiowa dyzostoza kończyn |
| cs | Nagerův syndrom | NAFD · Nagerova akrofaciální dysostóza · Preaxiální akrodysostóza · Mandibulofaciální dysostóza s preaxiálními končetinovými anomáliemi |
| uk | Синдром Нагера | Мандибулофаціальний дизостоз з преаксіальними аномаліями кінцівок · NAFD · Акрофаціальний дизостоз Нагера · Преаксіальний акродизостоз |
| zh | 纳赫尔综合征 | 下颌面骨发育不全伴轴前性肢体畸形 |
| tr | Nager sendromu | NAFD · preaksiyel akrodizostoz · Nager akrofasiyal dizostoz · Preaksiyel ekstremite anomalileri ile seyreden mandibulofasiyal dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154400 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0007943 | E | validated | |
| MeSH | C538184 | E | validated | |
| UMLS | C0265245 | E | validated | |
| GARD | 498 | E | validated | |
| MedDRA | 10084410 | 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 (8):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:138050Pierre Robin syndrome associated with branchial archs anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98576Syndromic outer canthal malposition
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SF3B4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10771 | ENSG00000143368 | 605593 | 1q21.2 | splicing factor 3b subunit 4 | 22541558[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ISBN:1437725562[OTHER] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_ISBN:1437725562[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Finland | Value and class | Validated | 17119427[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.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000347 | Micrognathia | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000175 | Cleft palate | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0001387 | Joint stiffness | |
| HP:0000652 | Lower eyelid coloboma | |
| HP:0008551 | Microtia | |
| HP:0000508 | Ptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0007776 | Sparse lower eyelashes | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0009829 | Phocomelia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000122 | Unilateral renal agenesis | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/245
- This record as JSON: /data/d/245.json