Orofaciodigital syndrome type 10

General Information (adopted from Orphanet):

Synonyms, Signs: ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA
ORAL-FACIAL-DIGITAL SYNDROME, TYPE X
OFDS X
OFD10
orofaciodigital syndrome with fibular aplasia
Figuera syndrome
Oral-facial-digital syndrome type 10
Number of Symptoms 26
OrphanetNr: 2756
OMIM Id: 165590
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[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
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
2
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
5
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
9
 (HPO:0000278) Retrognathia 100 / 7739
10
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
11
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
12
 (HPO:0002990) Fibular aplasia 16 / 7739
13
 (HPO:0001180) Hand oligodactyly 17 / 7739
14
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
15
 (HPO:0012165) Oligodactyly 18 / 7739
16
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
17
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
18
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
19
 (HPO:0100258) Preaxial polydactyly 39 / 7739
20
 (HPO:0005802) Coalescence of tarsal bones 1 / 7739
21
 (HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
22
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
23
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
24
 (OMIM) Radial shortening 2 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Vestibular frenulae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Figuera et al. (1993) reported a 10-month-old girl with facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula), and digital (oligodactyly, preaxial polydactyly) features supporting the diagnosis of OFD I syndrome (311200). However, the child also ...