Joubert syndrome with orofaciodigital defect

General Information (adopted from Orphanet):

Synonyms, Signs: OFD6
Joubert syndrome with oral-facial-digital syndrome
Orofaciodigital syndrome type 6
Oral-facial-digital syndrome type 6
Váradi-Papp syndrome
Váradi syndrome
Polydactyly - cleft lip/palate - psychomotor retardation
Number of Symptoms 65
OrphanetNr: 2754
OMIM Id: 277170
300804
614815
ICD-10: Q04.3
Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 29 cases [Orphanet]
Inheritance: X-linked recessive
X-linked
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Joubert syndrome and related disorders
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Orofaciodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000110) Renal dysplasia 44 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
5
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
6
 (HPO:0010297) Bifid tongue Very frequent [Orphanet] 17 / 7739
7
 (HPO:0100649) Neoplasm of the oral cavity Frequent [Orphanet] 20 / 7739
8
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
9
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
10
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000175) Cleft palate 349 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0000455) Broad nasal tip 67 / 7739
17
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
18
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
19
 (HPO:0000191) Accessory oral frenulum 6 / 7739
20
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
21
 (HPO:0000286) Epicanthus 371 / 7739
22
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
23
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
24
 (HPO:0000565) Esotropia 58 / 7739
25
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
26
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
27
 (HPO:0000657) Oculomotor apraxia Very frequent [Orphanet] 54 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
30
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
31
 (HPO:0000405) Conductive hearing impairment 164 / 7739
32
 (HPO:0002444) Hypothalamic hamartoma 5 / 7739
33
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0001263) Global developmental delay 853 / 7739
36
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
37
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
38
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
39
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
40
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Frequent [Orphanet] 23 / 7739
41
 (HPO:0100259) Postaxial polydactyly 85 / 7739
42
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
43
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
44
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
45
 (HPO:0001770) Toe syndactyly 149 / 7739
46
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
47
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
48
 (HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
49
 (HPO:0009466) Radial deviation of finger 101 / 7739
50
 (HPO:0006145) Central Y-shaped metacarpal 2 / 7739
51
 (HPO:0006159) Mesoaxial hand polydactyly 5 / 7739
52
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
53
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
54
 (HPO:0004322) Short stature 1232 / 7739
55
 (HPO:0001508) Failure to thrive 454 / 7739
56
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
57
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
58
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
59
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
62
 (HPO:0030084) Clinodactyly 90 / 7739
63
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
64
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
65
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: