Cleft palate - stapes fixation - oligodontia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 2010
OMIM Id: 216300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
2
 (HPO:0008498) No permanent dentition 2 / 7739
3
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
4
 (HPO:0000185) Cleft soft palate 18 / 7739
5
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
6
 (HPO:0012225) Oligodontia of primary teeth 1 / 7739
7
 (HPO:0008513) Bilateral conductive hearing impairment 11 / 7739
8
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
9
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
10
 (HPO:0001852) Sandal gap 63 / 7739
11
 (HPO:0010109) Short hallux 27 / 7739
12
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
13
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
14
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Foot bone fusions 1 / 7739
17
 (OMIM) Severe oligodontia of deciduous teeth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: