OCULODENTODIGITAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: ODD SYNDROME
OCULODENTOOSSEOUS DYSPLASIA
ODOD
ODDD
Number of Symptoms 45
OrphanetNr:
OMIM Id: 164200
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001592) Selective tooth agenesis 16 / 7739
2
(HPO:0000581) Blepharophimosis 197 / 7739
3
(HPO:0006480) Premature loss of teeth 23 / 7739
4
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000446) Narrow nasal bridge 29 / 7739
7
(HPO:0000286) Epicanthus 371 / 7739
8
(HPO:0000252) Microcephaly 832 / 7739
9
(HPO:0004495) Thin anteverted nares 2 / 7739
10
(HPO:0000691) Microdontia 104 / 7739
11
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
12
(HPO:0000679) Taurodontia 27 / 7739
13
(HPO:0000670) Carious teeth 145 / 7739
14
(HPO:0000568) Microphthalmia 183 / 7739
15
(HPO:0000187) Broad alveolar ridges 14 / 7739
16
(HPO:0000204) Cleft upper lip 193 / 7739
17
(HPO:0000518) Cataract 454 / 7739
18
(HPO:0000482) Microcornea 102 / 7739
19
(HPO:0000501) Glaucoma 180 / 7739
20
(HPO:0000405) Conductive hearing impairment 164 / 7739
21
(HPO:0002385) Paraparesis 12 / 7739
22
(HPO:0001257) Spasticity 251 / 7739
23
(HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
24
(HPO:0001249) Intellectual disability 1089 / 7739
25
(HPO:0002273) Tetraparesis 15 / 7739
26
(HPO:0001251) Ataxia 413 / 7739
27
(HPO:0001260) Dysarthria 329 / 7739
28
(HPO:0002827) Hip dislocation 94 / 7739
29
(HPO:0008442) Vertebral hyperostosis 3 / 7739
30
(HPO:0002135) Basal ganglia calcification 37 / 7739
31
(HPO:0005819) Short middle phalanx of finger 28 / 7739
32
(HPO:0002967) Cubitus valgus 49 / 7739
33
(HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
34
(HPO:0009183) Joint contracture of the 5th finger 8 / 7739
35
(HPO:0009779) 3-4 toe syndactyly 4 / 7739
36
(OMIM) Skull hyperostosis 1 / 7739
37
(OMIM) Syndactyly of 4th - 5th fingers 1 / 7739
38
(OMIM) Iris anomalies 1 / 7739
39
(OMIM) Diffuse yellow-orange non-epidermolytic hyperkeratosis on palms and soles (palmoplantar keratoderma) 1 / 7739
40
(OMIM) Broad tubular bones 1 / 7739
41
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
42
(OMIM) Fine, dry hair 1 / 7739
43
(OMIM) Small nares 3 / 7739
44
(OMIM) Sparse, slow-growing hair 1 / 7739
45
(OMIM) Lymphedema of lower limbs (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with ...
Clinical Description OMIM Gillespie (1964) described a brother and sister with bilateral microphthalmia, abnormally small nose, hypotrichosis, dental anomalies, fifth finger camptodactyly, syndactyly of the fourth and fifth fingers, and missing toe phalanges. Gillespie (1964) noted that similar features had been ...
Genotype-Phenotype Correlations OMIM In a Dutch kindred with ODDD and palmoplantar keratoderma, van Steensel et al. (2005) identified a 2-bp deletion in the GJA1 gene (121014.0010). The authors stated that this was the first reported mutation affecting the C-terminal loop, and ...
Molecular genetics OMIM Paznekas et al. (2003) analyzed the connexin-43 gene (GJA1; 121014) as a candidate for ODDD and identified mutations in all 17 families studied (see 121014.0003-121014.0007). Sixteen different missense mutations and 1 codon duplication were detected. These mutations may ...