Oculootodental syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OCULOOTODENTAL SYNDROME, INCLUDED
OTODENTAL SYNDROME OTODENTAL SYNDROME WITH COLOBOMA, INCLUDED
OOD
CHROMOSOME 11q13 DELETION SYNDROME
Number of Symptoms 16
OrphanetNr: 99806
OMIM Id: 166750
ICD-10: K00.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

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
Partial deletion of the long arm of chromosome 11
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000463) Anteverted nares 305 / 7739
2
(HPO:0000276) Long face 109 / 7739
3
(HPO:0003771) Pulp stones 6 / 7739
4
(HPO:0000679) Taurodontia 27 / 7739
5
(HPO:0000343) Long philtrum 262 / 7739
6
(HPO:0000589) Coloboma 47 / 7739
7
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
9
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
10
(OMIM) Enamel defect 3 / 7739
11
(OMIM) Ankylosis of primary molars 2 / 7739
12
(OMIM) Large, bulbous crowns of primary and secondary canines and molars (globodontia) 2 / 7739
13
(OMIM) Full-cheek appearance 2 / 7739
14
(OMIM) Double pulp chambers 2 / 7739
15
(OMIM) Microdeletion of chromosome 11q13 (43-490kb) 2 / 7739
16
(OMIM) Absence of teeth, variable (primarily the first and second premolars) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).
Clinical Description OMIM Levin et al. (1975) and Levin and Jorgenson (1972, 1974) described a syndrome of sensorineural hearing loss and dental anomalies in a 6-generation kindred of Italian ancestry. A high frequency hearing loss varied in onset from early childhood ...
Molecular genetics OMIM In a Brazilian ('OD1') and a Belgian ('OD3') family with otodental syndrome, originally described by de Toledo et al. (1971) and Van Doorne et al. (1998), respectively, and in a British family with otodental syndrome and coloboma ('OD2'), ...