MCID: TTH023
MIFTS: 14

Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

MalaCards integrated aliases for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum:

Name: Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum 56
Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome 58
Stoelinga-De Koomen-Davis Syndrome 58
Stoelinga De Koomen Davis Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
teeth, noneruption of, with maxillary hypoplasia and genu valgum:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 273050
MESH via Orphanet 44 C536952 C537496
UMLS via Orphanet 72 C1848903 C2931509
Orphanet 58 ORPHA2972
MedGen 41 C1848903
UMLS 71 C2931509

Summaries for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

MalaCards based summary : Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum, is also known as non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome. Related phenotypes are malar flattening and genu valgum

More information from OMIM: 273050

Related Diseases for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Symptoms & Phenotypes for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Human phenotypes related to Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
3 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
4 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
5 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
6 maxillozygomatic hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005439
7 alveolar process hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006329
8 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
9 low-set ears 31 HP:0000369
10 posteriorly rotated ears 31 HP:0000358
11 delayed eruption of primary teeth 31 HP:0000680
12 unerupted tooth 31 HP:0000706
13 multiple non-erupting secondary teeth 31 HP:0006321

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Skull:
maxillozygomatic hypoplasia
hypoplastic maxillary sinus

Head And Neck Teeth:
delayed eruption of primary teeth
alveolar process hypoplasia
multiple non-erupting secondary teeth
pseudoanodontia

Skeletal Limbs:
genu valga

Clinical features from OMIM:

273050

Drugs & Therapeutics for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Search Clinical Trials , NIH Clinical Center for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Genetic Tests for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Anatomical Context for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Publications for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Articles related to Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum:

# Title Authors PMID Year
1
Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects: An autosomal recessive disorder. 56
975598 1976

Variations for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Expression for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Search GEO for disease gene expression data for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum.

Pathways for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

GO Terms for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

Sources for Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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