ORPHA:1248
Maxillonasal dysplasia
Synonyms: Binder syndrome · Maxillonasal dysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial
- Age of onset
- Neonatal
- Status
- active
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maxillonasal dysplasia | Binder syndrome · Maxillonasal dysostosis |
| fr | Dysplasie maxillonasale | Dysostose maxillonasale · Syndrome de Binder |
| de | Binder-Syndrom | Dysplasie, maxillonasale, Typ Binder |
| es | Displasia maxilonasal | Síndrome de Binder |
| it | Sindrome di Binder | Displasia maxillonasale, tipo Binder |
| nl | Maxillonasale dysplasie | Maxillonasale dysostose · Syndroom van Binder |
| pt | Displasia maxilonasal | Síndrome Binder |
| pl | Dysplazja szczękowo-nosowa | Dyzostoza szczękowo-nosowa · Zespół Bindera |
| cs | Maxillonazální dysplázie | Maxillonazální dysostóza · Binderův syndrom |
| uk | Щелепно-лицьова дисплазія | Синдром Біндера · Щелепно-носовий дизостоз |
| zh | 上颌窦-鼻发育异常 | 上颌窦-鼻发育异常 |
| tr | Maksillonasal displazi | Binder sendromu · Maksillonasal dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155050 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007953 | E | validated | |
| MeSH | C536036 | E | validated | |
| UMLS | C0220692 | E | validated | |
| GARD | 6992 | E | validated | |
| MedDRA | 10075843 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0012368 | Flat face | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0011800 | Midface retrusion | |
| HP:0002000 | Short columella | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0005288 | Abnormality of the nares | |
| HP:0000175 | Cleft palate | |
| HP:0000691 | Microdontia | |
| HP:0010807 | Open bite | |
| HP:0004609 | Patchy distortion of vertebrae | |
| HP:0002650 | Scoliosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001065 | Striae distensae | |
| HP:0009804 | Tooth agenesis | |
| HP:0008428 | Vertebral clefting | |
| Occasional (29-5%) | ||
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0000303 | Mandibular prognathia | |
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/1248
- This record as JSON: /data/d/1248.json