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
Snomed: 270516002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
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: Sort by abundance 

(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).