Isolated congenital hypoglossia/aglossia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr: 141152
OMIM Id: 612776
ICD-10: Q38.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypoglossia/aglossia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000171) Microglossia 27 / 7739
3
 (HPO:0000160) Narrow mouth 188 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000668) Hypodontia 81 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0000750) Delayed speech and language development 197 / 7739
8
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
9
 (HPO:0001748) Polysplenia 14 / 7739
10
 (HPO:0004395) Malnutrition 12 / 7739
11
 (HPO:0001746) Asplenia 19 / 7739
12
 (HPO:0001696) Situs inversus totalis 44 / 7739
13
 (HPO:0001651) Dextrocardia 38 / 7739
14
 (HPO:0002781) Upper airway obstruction 7 / 7739
15
 (HPO:0002880) Respiratory difficulties 15 / 7739
16
 (HPO:0003745) Sporadic 131 / 7739
17
 (OMIM) Thickening of the lower alveolar ridge 1 / 7739
18
 (HPO:0003577) Congenital onset 133 / 7739
19
 (OMIM) Respiratory difficulties upper airway obstruction 1 / 7739
20
 (OMIM) Normal development 4 / 7739
21
 (OMIM) Feeding difficulties due to facial obstruction and hypoglossia 1 / 7739
22
 (OMIM) Speech difficulties due to hypoglossia 1 / 7739
23
 (OMIM) Malnutrition due to poor feeding 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008).

Hypoglossia is part of a group of malformation syndromes ...
Clinical Description OMIM - Hypoglossia with Situs Inversus

Watkin (1925) reported a girl with congenital absence of the anterior two-thirds of the tongue, small mandible, absence of several teeth, and hypertrophy of the sublingual glands. The latter appeared to ...