OFD11
MCID: ORF042
MIFTS: 24

Orofaciodigital Syndrome Xi (OFD11)

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 Xi

MalaCards integrated aliases for Orofaciodigital Syndrome Xi:

Name: Orofaciodigital Syndrome Xi 58 12 54
Orofaciodigital Syndrome 11 54 45 74
Ofd11 58 54 60
Oral-Facial-Digital Syndrome with Skeletal Anomalies 58 54
Oral-Facial-Digital Syndrome Type 11 54 60
Gabrielli Syndrome 58 54
Oral-Facial-Digital Syndrome, Gabrielli Type 60
Orofaciodigital Syndrome, Gabrielli Type 60
Oral-Facial-Digital Syndrome, Type Xi 58
Oral Facial Digital Syndrome Type 11 54
Orofaciodigital Syndrome Type 11 60
Oral Facial Digital Syndrome 11 54
Ofd Syndrome 11 54
Ofds Xi 58
Ofds 11 54

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 11
Inheritance: Not applicable; Age of onset: Neonatal;

OMIM:

58
Inheritance:
isolated cases


HPO:

33
orofaciodigital syndrome xi:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060381
OMIM 58 612913
MeSH 45 C557821
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C2752048
Orphanet 60 ORPHA141000
MedGen 43 C2752048
UMLS 74 C2752048

Summaries for Orofaciodigital Syndrome Xi

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141000Disease definitionOrofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Xi, also known as orofaciodigital syndrome 11, is related to orofaciodigital syndrome. Affiliated tissues include heart and bone, and related phenotypes are intellectual disability and cleft palate

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.

Description from OMIM: 612913

Related Diseases for Orofaciodigital Syndrome Xi

Symptoms & Phenotypes for Orofaciodigital Syndrome Xi

Human phenotypes related to Orofaciodigital Syndrome Xi:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 cleft palate 33 HP:0000175
3 kyphoscoliosis 33 HP:0002751
4 abnormality of the odontoid process 33 HP:0003310

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate

Neurologic Central Nervous System:
mental retardation
severe psychomotor delay
empty sella turcica

Skeletal Skull:
vomer duplication
cleft ethmoid bone
incomplete crista galli apophysis with small ethmoidal plate dehiscence

Skeletal Spine:
kyphoscoliosis
hypoplastic and slightly abnormal odontoid process
fusion of c2 and c3 posterior arches
partial synostosis between the atlas and the base of the occiput
cleft of cervical and dorsal vertebral bodies

Respiratory Nasopharynx:
nasopharyngeal hairy polyp

Clinical features from OMIM:

612913

Drugs & Therapeutics for Orofaciodigital Syndrome Xi

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xi

Cochrane evidence based reviews: orofaciodigital syndrome 11

Genetic Tests for Orofaciodigital Syndrome Xi

Anatomical Context for Orofaciodigital Syndrome Xi

MalaCards organs/tissues related to Orofaciodigital Syndrome Xi:

42
Heart, Bone

Publications for Orofaciodigital Syndrome Xi

Articles related to Orofaciodigital Syndrome Xi:

# Title Authors Year
1
Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type. ( 19650414 )
2009
2
Oral-facial-digital syndrome gabrielli type: second report. ( 12687670 )
2003

Variations for Orofaciodigital Syndrome Xi

Expression for Orofaciodigital Syndrome Xi

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

Pathways for Orofaciodigital Syndrome Xi

GO Terms for Orofaciodigital Syndrome Xi

Sources for Orofaciodigital Syndrome Xi

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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