OFD9
MCID: ORF043
MIFTS: 28

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

Aliases & Classifications for Orofaciodigital Syndrome Ix

MalaCards integrated aliases for Orofaciodigital Syndrome Ix:

Name: Orofaciodigital Syndrome Ix 58 12 54
Orofaciodigital Syndrome with Retinal Abnormalities 58 12 54 60
Orofaciodigital Syndrome 9 54 6 45 74
Ofd9 58 12 54 60
Oral-Facial-Digital Syndrome with Retinal Abnormalities 58 54 60
Oral-Facial-Digital Syndrome Type 9 54 60
Oral-Facial-Digital Syndrome, Type Ix 58
Oral Facial Digital Syndrome Type 9 54
Orofaciodigital Syndrome, Type Ix 41
Orofaciodigital Syndrome Type 9 60
Oral Facial Digital Syndrome 9 54
Ofd Syndrome 9 54
Ofds Ix 58
Ofds 9 54

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
orofaciodigital syndrome ix:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Ix

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141007Disease definitionOral-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 orofaciodigital syndrome and dandy-walker complex. 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.

Description from OMIM: 258865

Related Diseases for Orofaciodigital Syndrome Ix

Symptoms & Phenotypes for Orofaciodigital Syndrome Ix

Human phenotypes related to Orofaciodigital Syndrome Ix:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 brain atrophy 33 HP:0012444
3 high palate 33 HP:0000218
4 global developmental delay 33 HP:0001263
5 abnormality of the dentition 33 HP:0000164
6 short stature 33 HP:0004322
7 cleft palate 33 HP:0000175
8 strabismus 33 HP:0000486
9 telecanthus 33 HP:0000506
10 recurrent aspiration pneumonia 33 HP:0002100
11 broad nasal tip 33 HP:0000455
12 hand polydactyly 33 HP:0001161
13 toe syndactyly 33 HP:0001770
14 median cleft lip 33 HP:0000161
15 hamartoma 33 HP:0010566
16 camptodactyly 33 HP:0012385
17 short tibia 33 HP:0005736
18 accessory oral frenulum 33 HP:0000191
19 bifid nasal tip 33 HP:0000456
20 milia 33 HP:0001056
21 retinal coloboma 33 HP:0000480
22 hypoplasia of the epiglottis 33 HP:0005349

Symptoms via clinical synopsis from OMIM:

58
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
Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal
tarsal shortening

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth

Neurologic Central Nervous System:
brain atrophy
developmental delay
migrational abnormalities

Growth Height:
short stature

Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Hands:
camptodactyly
syndactyly
polydactyly
brachyphalangia
carpal shortening

Skin Nails Hair Skin:
milia

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:

42
Tongue, Brain, Bone, Eye

Publications for Orofaciodigital Syndrome Ix

Articles related to Orofaciodigital Syndrome Ix:

# Title Authors Year
1
Oral-facial-digital syndrome with retinal abnormalities: report of a new case. ( 8669453 )
1996
2
Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report. ( 8074150 )
1994
3
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) ( 1554016 )
1992

Variations for Orofaciodigital Syndrome Ix

ClinVar genetic disease variations for Orofaciodigital Syndrome Ix:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCLT1 NM_144643.3(SCLT1): c.1294-1_1294insAG insertion Uncertain significance GRCh38 Chromosome 4, 128946152: 128946153
2 SCLT1 NM_144643.3(SCLT1): c.1294-1_1294insAG insertion Uncertain significance GRCh37 Chromosome 4, 129867307: 129867308

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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