OFD18
MCID: ORF052
MIFTS: 24

Orofaciodigital Syndrome Xviii (OFD18)

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 Xviii

MalaCards integrated aliases for Orofaciodigital Syndrome Xviii:

Name: Orofaciodigital Syndrome Xviii 57
Orofaciodigital Syndrome 18 72 29 6
Ofds Xviii 57 72
Ofd18 57 72
Oral-Facial-Digital Syndrome, Type Xviii 57
Oral-Facial-Digital Syndrome Xviii 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 indian siblings (last curated march 2018)


HPO:

31
orofaciodigital syndrome xviii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xviii

UniProtKB/Swiss-Prot : 72 Orofaciodigital syndrome 18: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.

MalaCards based summary : Orofaciodigital Syndrome Xviii, also known as orofaciodigital syndrome 18, is related to oral-facial-digital syndrome with short stature and brachymesophalangy. An important gene associated with Orofaciodigital Syndrome Xviii is IFT57 (Intraflagellar Transport 57). Affiliated tissues include eye and bone, and related phenotypes are delayed skeletal maturation and wide nasal bridge

OMIM® : 57 Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016). (617927) (Updated 20-May-2021)

Related Diseases for Orofaciodigital Syndrome Xviii

Symptoms & Phenotypes for Orofaciodigital Syndrome Xviii

Human phenotypes related to Orofaciodigital Syndrome Xviii:

31 (showing 21, show less)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 wide nasal bridge 31 HP:0000431
3 short stature 31 HP:0004322
4 genu valgum 31 HP:0002857
5 upslanted palpebral fissure 31 HP:0000582
6 brachydactyly 31 HP:0001156
7 sandal gap 31 HP:0001852
8 prominent nasal bridge 31 HP:0000426
9 short philtrum 31 HP:0000322
10 short distal phalanx of finger 31 HP:0009882
11 single transverse palmar crease 31 HP:0000954
12 cervical ribs 31 HP:0000891
13 accessory oral frenulum 31 HP:0000191
14 short middle phalanx of finger 31 HP:0005819
15 urinary incontinence 31 HP:0000020
16 preaxial polydactyly 31 HP:0100258
17 postaxial polydactyly 31 HP:0100259
18 diastema 31 HP:0000699
19 cleft lip 31 HP:0410030
20 square face 31 HP:0000321
21 small forehead 31 HP:0000350

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Skeletal Feet:
sandal gap
preaxial polydactyly
postaxial polydactyly

Skeletal Hands:
postaxial polydactyly
short distal phalanges
short middle phalanges
marked brachydactyly
partial syndactyly of digits 3-5 (in some patients)

Skeletal:
delayed bone age

Head And Neck Teeth:
absent lower central incisors
diastema of upper incisors

Head And Neck Mouth:
multiple oral frenula
cleft lip, midline

Genitourinary Bladder:
urinary incontinence (in 1 patient)
short urethra (in 1 patient)

Skeletal Limbs:
genu valgum

Head And Neck Face:
short philtrum
square face
small forehead

Head And Neck Nose:
broad nasal bridge
high nasal bridge
pyriform nose

Head And Neck Eyes:
upslanting palpebral fissures

Skin Nails Hair Skin:
single palmar crease

Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs, bilateral (in 1 patient)

Endocrine Features:
decreased growth hormone

Clinical features from OMIM®:

617927 (Updated 20-May-2021)

Drugs & Therapeutics for Orofaciodigital Syndrome Xviii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xviii

Genetic Tests for Orofaciodigital Syndrome Xviii

Genetic tests related to Orofaciodigital Syndrome Xviii:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome 18 29 IFT57

Anatomical Context for Orofaciodigital Syndrome Xviii

MalaCards organs/tissues related to Orofaciodigital Syndrome Xviii:

40
Eye, Bone

Publications for Orofaciodigital Syndrome Xviii

Articles related to Orofaciodigital Syndrome Xviii:

(showing 2, show less)
# Title Authors PMID Year
1
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. 57 6
27060890 2016
2
Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome. 57
10457851 1999

Variations for Orofaciodigital Syndrome Xviii

ClinVar genetic disease variations for Orofaciodigital Syndrome Xviii:

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT57 NM_018010.4(IFT57):c.777G>A (p.Lys259=) SNV Pathogenic 506288 rs1553741312 GRCh37: 3:107910368-107910368
GRCh38: 3:108191521-108191521
2 IFT57 NM_018010.4(IFT57):c.585+3A>G SNV Likely pathogenic 592142 rs1560127636 GRCh37: 3:107932775-107932775
GRCh38: 3:108213928-108213928
3 IFT57 NM_018010.4(IFT57):c.1168A>G (p.Met390Val) SNV Uncertain significance 548601 rs1168796234 GRCh37: 3:107881446-107881446
GRCh38: 3:108162599-108162599

Expression for Orofaciodigital Syndrome Xviii

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

Pathways for Orofaciodigital Syndrome Xviii

GO Terms for Orofaciodigital Syndrome Xviii

Sources for Orofaciodigital Syndrome Xviii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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