Autosomal dominant prognathism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant prognathism | |
| fr | Prognathisme autosomique dominant | |
| de | Prognathie, autosomal-dominante | |
| es | Prognatismo autosómico dominante | |
| it | Prognatismo autosomico dominante | |
| nl | Autosomaal dominante prognathie | |
| pt | Prognatismo autossómico dominante | |
| pl | Autosomalny dominujący prognatyzm | |
| cs | Autozomálně dominantní prognatie | |
| uk | Аутосомно-домінантний прогнатизм | |
| zh | 常染色体显性遗传凸颌畸形 | |
| tr | Otozomal dominant öne çıkık çene |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176700 | E | validated | |
| ICD-10 | K07.1 | NTBT | attributed | validated |
| ICD-11 | DA0E.1 | NTBT | attributed | validated |
| MONDO | 0008312 | E | validated | |
| UMLS | C4755315 | E | validated | |
| GARD | 10319 | 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 (2):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 families | Worldwide | Family(ies) | Validated | 18074368[PMID] | |
| Point prevalence | Unknown | — | 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.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000303 | Mandibular prognathia | |
| HP:0010807 | Open bite | |
| Frequent (79-30%) | ||
| HP:0000232 | Everted lower lip vermilion | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2964
- This record as JSON: /data/d/2964.json