Congenital macroglossia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 3 |
| OrphanetNr: | 2430 |
| OMIM Id: |
153630
|
| ICD-10: |
Q38.2 |
| UMLs: |
C0009677 |
| MeSH: |
C531735 |
| MedDRA: |
|
| Snomed: |
270516002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Macroglossia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease |
Symptom Information:
|
|
(HPO:0000158) | Macroglossia | Very frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Isolated macroglossia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) | Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650). |