OFD9
MCID: ORF043
MIFTS: 27

Orofaciodigital Syndrome Ix (OFD9)

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 Ix

MalaCards integrated aliases for Orofaciodigital Syndrome Ix:

Name: Orofaciodigital Syndrome Ix 57 12 53
Orofaciodigital Syndrome with Retinal Abnormalities 57 12 53 59
Orofaciodigital Syndrome 9 53 6 44 72
Ofd9 57 12 53 59
Oral-Facial-Digital Syndrome with Retinal Abnormalities 57 53 59
Oral-Facial-Digital Syndrome Type 9 53 59
Oral-Facial-Digital Syndrome, Type Ix 57
Oral Facial Digital Syndrome Type 9 53
Orofaciodigital Syndrome, Type Ix 40
Orofaciodigital Syndrome Type 9 59
Oral Facial Digital Syndrome 9 53
Ofd Syndrome 9 53
Ofds Ix 57
Ofds 9 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)


HPO:

32
orofaciodigital syndrome ix:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060382
MeSH 44 C557818
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0796102
Orphanet 59 ORPHA141007
MedGen 42 C0796102
UMLS 72 C0796102

Summaries for Orofaciodigital Syndrome Ix

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141007DefinitionOral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).EpidemiologyLess than ten cases have been described in the literature.Clinical descriptionRecurrent aspiration pneumonia and severe microcephaly have been reported occasionally.EtiologyThe causative gene has not yet been identified.Genetic counselingAutosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Ix, also known as orofaciodigital syndrome with retinal abnormalities, is related to cleft palate, isolated and coloboma of macula. Affiliated tissues include tongue, brain and bone, and related phenotypes are hypertelorism and brain atrophy

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has material basis in autosomal recessive inheritance.

More information from OMIM: 258865 PS311200

Related Diseases for Orofaciodigital Syndrome Ix

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome Ix:



Diseases related to Orofaciodigital Syndrome Ix

Symptoms & Phenotypes for Orofaciodigital Syndrome Ix

Human phenotypes related to Orofaciodigital Syndrome Ix:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 brain atrophy 32 HP:0012444
3 high palate 32 HP:0000218
4 global developmental delay 32 HP:0001263
5 abnormality of the dentition 32 HP:0000164
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 cleft palate 32 HP:0000175
9 broad nasal tip 32 HP:0000455
10 strabismus 32 HP:0000486
11 telecanthus 32 HP:0000506
12 recurrent aspiration pneumonia 32 HP:0002100
13 hand polydactyly 32 HP:0001161
14 toe syndactyly 32 HP:0001770
15 median cleft lip 32 HP:0000161
16 camptodactyly 32 HP:0012385
17 hamartoma 32 HP:0010566
18 milia 32 HP:0001056
19 short tibia 32 HP:0005736
20 accessory oral frenulum 32 HP:0000191
21 bifid nasal tip 32 HP:0000456
22 retinal coloboma 32 HP:0000480
23 hypoplasia of the epiglottis 32 HP:0005349

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus
retinal coloboma
duane syndrome (rare)

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Respiratory Lung:
recurrent aspiration pneumonia

Skin Nails Hair Skin:
milia

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth

Neurologic Central Nervous System:
brain atrophy
developmental delay
migrational abnormalities

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Hands:
camptodactyly
syndactyly
polydactyly
brachyphalangia
carpal shortening

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal
tarsal shortening

Respiratory Larynx:
hypoplastic epiglottis

Genitourinary External Genitalia Female:
absent clitoris (rare)

Clinical features from OMIM:

258865

Drugs & Therapeutics for Orofaciodigital Syndrome Ix

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Ix

Cochrane evidence based reviews: orofaciodigital syndrome 9

Genetic Tests for Orofaciodigital Syndrome Ix

Anatomical Context for Orofaciodigital Syndrome Ix

MalaCards organs/tissues related to Orofaciodigital Syndrome Ix:

41
Tongue, Brain, Bone

Publications for Orofaciodigital Syndrome Ix

Articles related to Orofaciodigital Syndrome Ix:

# Title Authors PMID Year
1
Oral-facial-digital syndrome with retinal abnormalities: report of a new case. 38 8
8669453 1996
2
Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report. 38 8
8074150 1994
3
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) 38 8
1554016 1992
4
Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. 8
18000902 2007
5
Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. 8
9598735 1998
6
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 8
2309783 1990

Variations for Orofaciodigital Syndrome Ix

ClinVar genetic disease variations for Orofaciodigital Syndrome Ix:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCLT1 NM_144643.4(SCLT1): c.1294-1_1294dup duplication Uncertain significance 4:129867307-129867308 4:128946152-128946153

Expression for Orofaciodigital Syndrome Ix

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

Pathways for Orofaciodigital Syndrome Ix

GO Terms for Orofaciodigital Syndrome Ix

Sources for Orofaciodigital Syndrome Ix

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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