OFD10
MCID: ORF041
MIFTS: 22

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 57 12 53 44 72
Orofaciodigital Syndrome with Fibular Aplasia 57 12 53 59
Ofd10 57 12 53 59
Oral-Facial-Digital Syndrome with Fibular Aplasia 57 53
Orofaciodigital Syndrome Type Figuera 53
Oral-Facial-Digital Syndrome, Type X 57
Oral Facial Digital Syndrome Type 10 53
Oral-Facial-Digital Syndrome Type 10 59
Orofaciodigital Syndrome Type 10 59
Oral Facial Digital Syndrome 10 53
Oral-Facial-Digital Syndrome 10 53
Orofaciodigital Syndrome 10 53
Figuera Syndrome 59
Ofd Syndrome 10 53
Ofds 10 53
Ofds X 57

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 10
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
orofaciodigital syndrome x:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060380
MeSH 44 C563491
ICD10 33 Q87.0
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1833796
Orphanet 59 ORPHA2756
MedGen 42 C1833796
UMLS 72 C1833796

Summaries for Orofaciodigital Syndrome X

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2756DefinitionOral-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. Affiliated tissues include bone, and related phenotypes are short neck and depressed nasal bridge

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 PS311200

Related Diseases for Orofaciodigital Syndrome X

Symptoms & Phenotypes for Orofaciodigital Syndrome X

Human phenotypes related to Orofaciodigital Syndrome X:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
3 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
4 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
5 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
6 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
7 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
8 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
9 tarsal synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0008368
10 oligodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0012165
11 fibular aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002990
12 aplasia/hypoplasia of the nails 59 32 frequent (33%) Frequent (79-30%) HP:0008386
13 mesomelic arm shortening 59 32 frequent (33%) Frequent (79-30%) HP:0005011
14 short tibia 59 32 frequent (33%) Frequent (79-30%) HP:0005736
15 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
16 cleft soft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000185
17 mesomelic leg shortening 59 32 frequent (33%) Frequent (79-30%) HP:0004987
18 polysyndactyly of hallux 59 32 frequent (33%) Frequent (79-30%) HP:0005873
19 metatarsal synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001440
20 hypoplasia of proximal radius 59 32 frequent (33%) Frequent (79-30%) HP:0006434
21 multiple palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0006114
22 prominent calcaneus 59 32 frequent (33%) Frequent (79-30%) HP:0012428
23 duplication of thumb phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0009942
24 short 4th finger 59 32 frequent (33%) Frequent (79-30%) HP:0009280
25 radial deviation of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009486
26 cleft palate 32 HP:0000175
27 preaxial hand polydactyly 32 HP:0001177
28 preaxial polydactyly 59 Frequent (79-30%)
29 hand oligodactyly 32 HP:0001180
30 coalescence of tarsal bones 32 HP:0005802

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 38 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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