OFD10
MCID: ORF041
MIFTS: 26

Orofaciodigital Syndrome X (OFD10)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome X

MalaCards integrated aliases for Orofaciodigital Syndrome X:

Name: Orofaciodigital Syndrome X 56 12 52 43 15 71
Orofaciodigital Syndrome with Fibular Aplasia 56 12 52 58
Ofd10 56 12 52 58
Oral-Facial-Digital Syndrome with Fibular Aplasia 56 52
Orofaciodigital Syndrome Type Figuera 52
Oral-Facial-Digital Syndrome, Type X 56
Oral Facial Digital Syndrome Type 10 52
Oral-Facial-Digital Syndrome Type 10 58
Orofaciodigital Syndrome Type 10 58
Oral Facial Digital Syndrome 10 52
Oral-Facial-Digital Syndrome 10 52
Orofaciodigital Syndrome 10 52
Figuera Syndrome 58
Ofd Syndrome 10 52
Ofds 10 52
Ofds X 56

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 10
Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
orofaciodigital syndrome x:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060380
OMIM 56 165590
MeSH 43 C563491
ICD10 32 Q87.0
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1833796
Orphanet 58 ORPHA2756
MedGen 41 C1833796
UMLS 71 C1833796

Summaries for Orofaciodigital Syndrome X

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2756 Definition Oral-facial-digital syndrome , type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate , vestibular frenula) and digital (oligodactyly, preaxial polydactyly ) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome X, also known as orofaciodigital syndrome with fibular aplasia, is related to cleft palate, isolated and orofaciodigital syndrome. An important gene associated with Orofaciodigital Syndrome X is OFD1 (OFD1 Centriole And Centriolar Satellite Protein). Affiliated tissues include bone, and related phenotypes are depressed nasal bridge and short neck

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.

More information from OMIM: 165590

Related Diseases for Orofaciodigital Syndrome X

Symptoms & Phenotypes for Orofaciodigital Syndrome X

Human phenotypes related to Orofaciodigital Syndrome X:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
2 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
3 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
4 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
7 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
8 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
9 oligodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012165
10 tarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0008368
11 fibular aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002990
12 aplasia/hypoplasia of the nails 58 31 frequent (33%) Frequent (79-30%) HP:0008386
13 mesomelic arm shortening 58 31 frequent (33%) Frequent (79-30%) HP:0005011
14 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
15 short tibia 58 31 frequent (33%) Frequent (79-30%) HP:0005736
16 hypoplasia of proximal radius 58 31 frequent (33%) Frequent (79-30%) HP:0006434
17 metatarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001440
18 cleft soft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000185
19 duplication of thumb phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0009942
20 mesomelic leg shortening 58 31 frequent (33%) Frequent (79-30%) HP:0004987
21 prominent calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0012428
22 multiple palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0006114
23 polysyndactyly of hallux 58 31 frequent (33%) Frequent (79-30%) HP:0005873
24 short 4th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009280
25 radial deviation of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009486
26 cleft palate 31 HP:0000175
27 preaxial hand polydactyly 31 HP:0001177
28 hand oligodactyly 31 HP:0001180
29 preaxial polydactyly 58 Frequent (79-30%)
30 coalescence of tarsal bones 31 HP:0005802

Symptoms via clinical synopsis from OMIM:

56
Mouth:
cleft palate
retrognathia
vestibular frenula

Limbs:
oligodactyly
fibular aplasia
preaxial polydactyly
coalescence of tarsal bones
radial shortening

Facies:
telecanthus

Nose:
flat nasal bridge

Clinical features from OMIM:

165590

MGI Mouse Phenotypes related to Orofaciodigital Syndrome X:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 CLCNKA ESCO2 HIC2 OFD1 RBM8A RFLNB

Drugs & Therapeutics for Orofaciodigital Syndrome X

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome X

Cochrane evidence based reviews: orofaciodigital syndrome x

Genetic Tests for Orofaciodigital Syndrome X

Anatomical Context for Orofaciodigital Syndrome X

MalaCards organs/tissues related to Orofaciodigital Syndrome X:

40
Bone

Publications for Orofaciodigital Syndrome X

Articles related to Orofaciodigital Syndrome X:

# Title Authors PMID Year
1
Oral-facial-digital syndrome with fibular aplasia: a new variant. 56 61
8261648 1993

Variations for Orofaciodigital Syndrome X

Expression for Orofaciodigital Syndrome X

Search GEO for disease gene expression data for Orofaciodigital Syndrome X.

Pathways for Orofaciodigital Syndrome X

GO Terms for Orofaciodigital Syndrome X

Sources for Orofaciodigital Syndrome X

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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