Congenital macroglossia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital macroglossia | |
| fr | Macroglossie congénitale | |
| de | Makroglossie, kongenitale | |
| es | Macroglosia congénita | |
| it | Macroglossia congenita | |
| nl | Congenitale macroglossie | |
| pt | Macroglossia congénita | |
| pl | Wrodzony przerost języka | |
| cs | Vrozená makroglosie | |
| uk | Вроджена макроглосія | |
| zh | 先天性巨舌 | |
| tr | Doğumsal makroglosi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153630 | E | validated | |
| ICD-10 | Q38.2 | NTBT | attributed | validated |
| ICD-11 | LA31.0 | E | specific | validated |
| MONDO | 0007927 | E | validated | |
| MeSH | C531735 | E | validated | |
| UMLS | C0009677 | 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 (1):
- ORPHA:156207Macroglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.6 / 100 000 | United States | Value and class | Validated | 29570380[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
4 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000158 | Macroglossia | |
| Very rare (<4-1%) | ||
| HP:0500030 | Abnormal hepatic glycogen storage | |
| HP:0000821 | Hypothyroidism | |
| HP:0001067 | Neurofibromas | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7917123[PMID]_29421209[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2430
- This record as JSON: /data/d/2430.json