OFD11
MCID: ORF042
MIFTS: 25

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Xi

MalaCards integrated aliases for Orofaciodigital Syndrome Xi:

Name: Orofaciodigital Syndrome Xi 57 12 20
Orofaciodigital Syndrome 11 20 44 70
Ofd11 57 20 58
Oral-Facial-Digital Syndrome with Skeletal Anomalies 57 20
Oral-Facial-Digital Syndrome Type 11 20 58
Gabrielli Syndrome 57 20
Oral-Facial-Digital Syndrome, Gabrielli Type 58
Orofaciodigital Syndrome, Gabrielli Type 58
Oral-Facial-Digital Syndrome, Type Xi 57
Oral Facial Digital Syndrome Type 11 20
Orofaciodigital Syndrome Type 11 58
Oral Facial Digital Syndrome 11 20
Ofd Syndrome 11 20
Ofds Xi 57
Ofds 11 20

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 11
Inheritance: Not applicable; Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
isolated cases


HPO:

31
orofaciodigital syndrome xi:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060381
OMIM® 57 612913
MeSH 44 C557821
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C2752048
Orphanet 58 ORPHA141000
MedGen 41 C2752048
UMLS 70 C2752048

Summaries for Orofaciodigital Syndrome Xi

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141000 Definition Orofaciodigital 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.

MalaCards based summary : Orofaciodigital Syndrome Xi, also known as orofaciodigital syndrome 11, is related to orofaciodigital syndrome and hypertelorism. Affiliated tissues include eye and bone, and related phenotypes are wide nasal bridge and gastroesophageal reflux

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.

More information from OMIM: 612913

Related Diseases for Orofaciodigital Syndrome Xi

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



Diseases related to Orofaciodigital Syndrome Xi

Symptoms & Phenotypes for Orofaciodigital Syndrome Xi

Human phenotypes related to Orofaciodigital Syndrome Xi:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 31 very rare (1%) HP:0000431
2 gastroesophageal reflux 31 very rare (1%) HP:0002020
3 cleft palate 31 very rare (1%) HP:0000175
4 downslanted palpebral fissures 31 very rare (1%) HP:0000494
5 bulbous nose 31 very rare (1%) HP:0000414
6 hypoplasia of the odontoid process 31 very rare (1%) HP:0003311
7 postaxial polydactyly 31 very rare (1%) HP:0100259
8 seizure 31 very rare (1%) HP:0001250
9 intellectual disability 31 HP:0001249
10 kyphoscoliosis 31 HP:0002751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Bone

Publications for Orofaciodigital Syndrome Xi

Articles related to Orofaciodigital Syndrome Xi:

# Title Authors PMID Year
1
Oral-facial-digital syndrome gabrielli type: second report. 57
12687670 2003
2
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli? 57
12439899 2002
3
Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? 57
7531942 1994
4
Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan. 61
24019612 2013

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
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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