Isolated congenital hypoglossia/aglossia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital hypoglossia/aglossia | |
| fr | Hypoglossie/aglossie isolée congénitale | |
| de | Hypoglossie/Aglossie, isoliert, kongenital | |
| es | Hipoglosia/aglosia aislada congénita | |
| it | Ipoglossia/aglossia isolata congenita | |
| nl | Geïsoleerde congenitale hypoglossie/aglossie | |
| pt | Hipoglossia/aglossia, isolada, congénita | |
| pl | Izolowany wrodzony niedorozwój języka/brak języka | |
| cs | Izolovaná vrozená hypoglosie/aglosie | |
| uk | Ізольована вроджена гіпоглоссія/аглосія | |
| zh | 先天性舌发育不全/无舌症 | |
| tr | İzole doğumsal hipoglossi / aglossi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612776 | E | validated | |
| ICD-10 | Q38.3 | NTBT | attributed | validated |
| ICD-11 | LA31.1 | E | specific | validated |
| MONDO | 0013003 | E | validated | |
| UMLS | C5680636 | 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:156212Hypoglossia/aglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
16 annotations · validated 2021-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002094 | Dyspnea | |
| HP:0011968 | Feeding difficulties | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| Frequent (79-30%) | ||
| HP:0006265 | Aplasia/Hypoplasia of fingers | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000171 | Microglossia | |
| HP:0000347 | Micrognathia | |
| HP:0002098 | Respiratory distress | |
| HP:0002781 | Upper airway obstruction | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0005483 | Abnormal epiglottis morphology | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0000175 | Cleft palate | |
| HP:0010566 | Hamartoma | |
| HP:0012478 | Temporomandibular joint ankylosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 12697349[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141152
- This record as JSON: /data/d/141152.json