Orofaciodigital syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: OFDS III
ORAL-FACIAL-DIGITAL SYNDROME, TYPE III
OFD3
Oral-facial-digital syndrome type 3
sugarman syndrome
Number of Symptoms 42
OrphanetNr: 2752
OMIM Id: 258850
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[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
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0000199) Tongue nodules 5 / 7739
4
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
5
 (HPO:0011069) Increased number of teeth Very frequent [Orphanet] 39 / 7739
6
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
7
 (HPO:0000193) Bifid uvula 66 / 7739
8
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
10
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
11
 (HPO:0000691) Microdontia 104 / 7739
12
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
13
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
14
 (HPO:0000414) Bulbous nose 63 / 7739
15
 (HPO:0011067) Mesiodens 3 / 7739
16
 (HPO:0010297) Bifid tongue 17 / 7739
17
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
18
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
19
 (HPO:0008002) Abnormality of macular pigmentation Occasional [Orphanet] 20 / 7739
20
 (HPO:0000369) Low-set ears 372 / 7739
21
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
22
 (HPO:0009912) Abnormality of the tragus Frequent [Orphanet] 12 / 7739
23
 (HPO:0001336) Myoclonus 115 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
26
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
27
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
28
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
29
 (HPO:0000879) Short sternum 16 / 7739
30
 (HPO:0100259) Postaxial polydactyly 85 / 7739
31
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
32
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
33
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
34
 (HPO:0001167) Abnormality of finger Frequent [Orphanet] 29 / 7739
35
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
36
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
37
 (HPO:0001795) Hyperconvex nail 13 / 7739
38
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
40
 (OMIM) See-saw eye winking 1 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (OMIM) Macular red spot 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sugarman et al. (1971) reported a new form of oral-facial-digital syndrome in 2 sisters. Features were mental retardation, eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly of hands and feet, pectus excavatum, short sternum, and ...