Orofaciodigital syndrome type 8

General Information (adopted from Orphanet):

Synonyms, Signs: ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII
OFDS VIII
EDWARDS SYNDROME
ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS
OFD8
Orofaciodigital syndrome, Edwards type
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Number of Symptoms 48
OrphanetNr: 2755
OMIM Id: 300484
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofaciodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
2
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
5
 (HPO:0000161) Median cleft lip 27 / 7739
6
 (HPO:0011069) Increased number of teeth Very frequent [Orphanet] 39 / 7739
7
 (HPO:0010297) Bifid tongue Very frequent [Orphanet] 17 / 7739
8
 (HPO:0000455) Broad nasal tip 67 / 7739
9
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
10
 (HPO:0100267) Lip pit Very frequent [Orphanet] 9 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
13
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
14
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
15
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
16
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
17
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
18
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
19
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
20
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
21
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
22
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
23
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
24
 (HPO:0000175) Cleft palate 349 / 7739
25
 (HPO:0000456) Bifid nasal tip 11 / 7739
26
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
27
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
28
 (HPO:0000486) Strabismus 576 / 7739
29
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
30
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
31
 (HPO:0001263) Global developmental delay 853 / 7739
32
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
34
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
35
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
36
 (HPO:0010442) Polydactyly 69 / 7739
37
 (HPO:0001159) Syndactyly 140 / 7739
38
 (HPO:0005736) Short tibia 19 / 7739
39
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
40
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
41
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
42
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
43
 (HPO:0001056) Milia 24 / 7739
44
 (HPO:0002100) Recurrent aspiration pneumonia 6 / 7739
45
 (HPO:0005349) Hypoplasia of the epiglottis 7 / 7739
46
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
47
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
48
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Edwards et al. (1988) described a family with orofaciodigital manifestations including hypertelorism or telecanthus, broad, bifid nasal tip, median cleft lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, bilateral polydactyly, and duplicated halluces. Males in ...