Non-eruption of teeth - maxillary hypoplasia - genu valgum

General Information (adopted from Orphanet):

Synonyms, Signs: Stoelinga-de Koomen-Davis syndrome
Number of Symptoms 16
OrphanetNr: 2972
OMIM Id: 273050
ICD-10:
UMLs: C1848903
C2931509
MeSH: C536952
C537496
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: No data available
[Orphanet]
Age of onset: Childhood
[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:0000680) Delayed eruption of primary teeth 10 / 7739
2
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
3
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
4
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
5
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
6
 (HPO:0005439) Maxillozygomatic hypoplasia 1 / 7739
7
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
8
 (HPO:0006321) Multiple non-erupting secondary teeth 1 / 7739
9
 (HPO:0006329) Alveolar process hypoplasia 1 / 7739
10
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
11
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Hypoplastic maxillary sinus 1 / 7739
16
 (OMIM) Pseudoanodontia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: