MCID: CLF043
MIFTS: 13

Cleft Palate, Deafness, and Oligodontia

Categories: Ear diseases, Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cleft Palate, Deafness, and Oligodontia

MalaCards integrated aliases for Cleft Palate, Deafness, and Oligodontia:

Name: Cleft Palate, Deafness, and Oligodontia 56
Cleft Palate-Stapes Fixation-Oligodontia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cleft palate-stapes fixation-oligodontia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cleft palate, deafness, and oligodontia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 216300
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859081
Orphanet 58 ORPHA2010
MedGen 41 C1859081

Summaries for Cleft Palate, Deafness, and Oligodontia

MalaCards based summary : Cleft Palate, Deafness, and Oligodontia, is also known as cleft palate-stapes fixation-oligodontia syndrome. Affiliated tissues include bone, and related phenotypes are cleft palate and telecanthus

More information from OMIM: 216300

Related Diseases for Cleft Palate, Deafness, and Oligodontia

Symptoms & Phenotypes for Cleft Palate, Deafness, and Oligodontia

Human phenotypes related to Cleft Palate, Deafness, and Oligodontia:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
3 abnormality of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003028
4 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
5 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
6 bilateral conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008513
7 oligodontia of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0012225
8 carpal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0009702
9 sandal gap 31 HP:0001852
10 short hallux 31 HP:0010109
11 abnormality of the wrist 58 Frequent (79-30%)
12 no permanent dentition 31 HP:0008498
13 cleft soft palate 31 HP:0000185

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
no permanent dentition
cleft soft palate
severe oligodontia of deciduous teeth
bilateral conductive deafness

Skel:
short halluces
wide space between first and second toes
foot bone fusions

Clinical features from OMIM:

216300

Drugs & Therapeutics for Cleft Palate, Deafness, and Oligodontia

Search Clinical Trials , NIH Clinical Center for Cleft Palate, Deafness, and Oligodontia

Genetic Tests for Cleft Palate, Deafness, and Oligodontia

Anatomical Context for Cleft Palate, Deafness, and Oligodontia

MalaCards organs/tissues related to Cleft Palate, Deafness, and Oligodontia:

40
Bone

Publications for Cleft Palate, Deafness, and Oligodontia

Variations for Cleft Palate, Deafness, and Oligodontia

Expression for Cleft Palate, Deafness, and Oligodontia

Search GEO for disease gene expression data for Cleft Palate, Deafness, and Oligodontia.

Pathways for Cleft Palate, Deafness, and Oligodontia

GO Terms for Cleft Palate, Deafness, and Oligodontia

Sources for Cleft Palate, Deafness, and Oligodontia

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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