Oculodentodigital dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Meyer-Schwickerath syndrome
Oculodentoosseous dysplasia
ODDD syndrome
Number of Symptoms 115
OrphanetNr: 2710
OMIM Id: 164200
257850
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA: 10063691
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 243 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Ectodermal malformation syndrome associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
 (HPO:0000011) Neurogenic bladder rare [HPO:skoehler] 11 / 7739
3
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
6
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
7
 (HPO:0001592) Selective tooth agenesis 16 / 7739
8
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
9
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
10
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
11
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
12
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
13
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
14
 (HPO:0000161) Median cleft lip Frequent [Orphanet] 27 / 7739
15
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
16
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
17
 (HPO:0000568) Microphthalmia 183 / 7739
18
 (HPO:0009933) Narrow naris Frequent [Orphanet] 16 / 7739
19
 (HPO:0000252) Microcephaly 832 / 7739
20
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
21
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
22
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
23
 (HPO:0000679) Taurodontia Occasional [Orphanet] rare [HPO:skoehler] 27 / 7739
24
 (HPO:0000691) Microdontia 104 / 7739
25
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
26
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
27
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
28
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
29
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
30
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
31
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
32
 (HPO:0000187) Broad alveolar ridges Frequent [Orphanet] 14 / 7739
33
 (HPO:0006480) Premature loss of teeth 23 / 7739
34
 (HPO:0010761) Broad columella Very frequent [Orphanet] 10 / 7739
35
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
36
 (HPO:0004495) Thin anteverted nares 2 / 7739
37
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
38
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
39
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
40
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
41
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
42
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
43
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
44
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
45
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
46
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
47
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
48
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
49
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
50
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
51
 (HPO:0000377) Abnormality of the pinna rare [HPO:skoehler] 111 / 7739
52
 (HPO:0001260) Dysarthria 329 / 7739
53
 (HPO:0001249) Intellectual disability 1089 / 7739
54
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
55
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
56
 (HPO:0002385) Paraparesis 12 / 7739
57
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
58
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
59
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
60
 (HPO:0002273) Tetraparesis 15 / 7739
61
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
62
 (HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
63
 (HPO:0001257) Spasticity 251 / 7739
64
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
65
 (HPO:0001251) Ataxia 413 / 7739
66
 (HPO:0009183) Joint contracture of the 5th finger 8 / 7739
67
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
68
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
69
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
70
 (HPO:0009779) 3-4 toe syndactyly 4 / 7739
71
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
72
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
73
 (HPO:0003067) Madelung deformity Occasional [Orphanet] 9 / 7739
74
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
75
 (HPO:0010109) Short hallux Occasional [Orphanet] 27 / 7739
76
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
77
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
78
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
79
 (HPO:0008442) Vertebral hyperostosis 3 / 7739
80
 (HPO:0002967) Cubitus valgus 49 / 7739
81
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
82
 (HPO:0010705) 4-5 finger syndactyly 3 / 7739
83
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
84
 (HPO:0100774) Hyperostosis Frequent [Orphanet] 17 / 7739
85
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
86
 (HPO:0000940) Abnormal diaphysis morphology Occasional [Orphanet] 41 / 7739
87
 (HPO:0002135) Basal ganglia calcification 37 / 7739
88
 (HPO:0002827) Hip dislocation 94 / 7739
89
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
90
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
91
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
92
 (HPO:0002213) Fine hair Occasional [Orphanet] 77 / 7739
93
 (HPO:0001808) Fragile nails 21 / 7739
94
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
95
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
96
 (HPO:0011359) Dry hair 16 / 7739
97
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
98
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
99
 (HPO:0008070) Sparse hair 94 / 7739
100
 (HPO:0010719) Abnormality of hair texture Frequent [Orphanet] 24 / 7739
101
 (HPO:0002217) Slow-growing hair Frequent [Orphanet] 22 / 7739
102
 (HPO:0002299) Brittle hair Occasional [Orphanet] 52 / 7739
103
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
104
 (HPO:0011675) Arrhythmia Occasional [Orphanet] rare [HPO:skoehler] 226 / 7739
105
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
106
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
107
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
108
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
109
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
110
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
111
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
112
 (HPO:0030084) Clinodactyly 90 / 7739
113
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
114
 (HPO:0012745) Short palpebral fissure 47 / 7739
115
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: