OROFACIODIGITAL SYNDROME VI

General Information (adopted from Orphanet):

Synonyms, Signs: OFDS VI
VARADI SYNDROME
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI
VARADI-PAPP SYNDROME
POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION
OFD6
Number of Symptoms 34
OrphanetNr:
OMIM Id: 277170
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with orofaciodigital defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000110) Renal dysplasia 44 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000455) Broad nasal tip 67 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000204) Cleft upper lip 193 / 7739
8
 (HPO:0000286) Epicanthus 371 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0000639) Nystagmus 555 / 7739
11
 (HPO:0000565) Esotropia 58 / 7739
12
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
13
 (HPO:0000369) Low-set ears 372 / 7739
14
 (HPO:0000405) Conductive hearing impairment 164 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0100258) Preaxial polydactyly 39 / 7739
18
 (HPO:0001159) Syndactyly 140 / 7739
19
 (HPO:0006145) Central Y-shaped metacarpal 2 / 7739
20
 (HPO:0100260) Mesoaxial polydactyly 3 / 7739
21
 (HPO:0004322) Short stature 1232 / 7739
22
 (HPO:0001508) Failure to thrive 454 / 7739
23
 (HPO:0001252) Muscular hypotonia 990 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (OMIM) Lingual nodules 1 / 7739
28
 (MedDRA:10072883) Brachydactyly 153 / 7739
29
 (OMIM) Intraoral frenula 1 / 7739
30
 (OMIM) Sublingual nodules 1 / 7739
31
 (MedDRA:10058668) Clinodactyly 91 / 7739
32
 (OMIM) Polydactyly, preaxial or postaxial 4 / 7739
33
 (OMIM) Lobed tongue 1 / 7739
34
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739

Associated genes:

C5orf42;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oral-facial-digital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities (Doss et al., 1998).
Clinical Description OMIM In 7 children in an inbred Gypsy group, Varadi et al. (1980) delineated a 'new' syndrome of reduplicated big toes, hexadactyly, cleft lip/palate or lingual nodule, and somatic and psychomotor retardation. Some showed absent olfactory bulbs and tracts, ...
Molecular genetics OMIM Valente et al. (2010) reported 2 unrelated Ashkenazi Jewish patients, a 4-year-old boy and a male fetus, with Joubert syndrome-2 (JBTS2; 608091) caused by the same homozygous mutation in the TMEM216 gene (R73L; 613277.0001). In addition to molar ...