MCID: OCL040
MIFTS: 28

Oculomaxillofacial Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Oculomaxillofacial Dysostosis

MalaCards integrated aliases for Oculomaxillofacial Dysostosis:

Name: Oculomaxillofacial Dysostosis 54 60 30 6 74
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 54
Richieri Costa Gorlin Syndrome 54
Richieri-Costa-Gorlin Syndrome 60
Oblique Facial Clefts 54

Classifications:



External Ids:

MESH via Orphanet 46 C537736
ICD10 via Orphanet 35 Q75.1
UMLS via Orphanet 75 C1838348
Orphanet 60 ORPHA1794
UMLS 74 C1838348

Summaries for Oculomaxillofacial Dysostosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1794Disease definitionOculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Oculomaxillofacial Dysostosis, also known as oculomaxillofacial dysplasia with oblique facial clefts, is related to facial clefting, oblique, 1 and teeth, supernumerary. An important gene associated with Oculomaxillofacial Dysostosis is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include bone and eye, and related phenotypes are corneal opacity and abnormality of the dentition

Related Diseases for Oculomaxillofacial Dysostosis

Diseases related to Oculomaxillofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 facial clefting, oblique, 1 11.3
2 teeth, supernumerary 10.2
3 cleft palate, isolated 10.0
4 johanson-blizzard syndrome 10.0
5 fryns microphthalmia syndrome 10.0
6 hydrocephalus 10.0
7 microphthalmia 10.0
8 synostosis 10.0
9 cleft lip 10.0
10 congenital hydrocephalus 10.0
11 cleft lip/palate 10.0

Graphical network of the top 20 diseases related to Oculomaxillofacial Dysostosis:



Diseases related to Oculomaxillofacial Dysostosis

Symptoms & Phenotypes for Oculomaxillofacial Dysostosis

Human phenotypes related to Oculomaxillofacial Dysostosis:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
2 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
3 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
6 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
7 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
8 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
9 facial cleft 60 33 frequent (33%) Frequent (79-30%) HP:0002006
10 median cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0000161
11 sparse or absent eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0200102
12 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
13 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
14 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
15 adducted thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001181
16 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
17 aplasia/hypoplasia affecting the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0008056
18 abnormality of the humerus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003063
19 abnormality of the eyelashes 60 Frequent (79-30%)
20 abnormality of the eyelid 60 Occasional (29-5%)
21 abnormality of the nose 60 Frequent (79-30%)

Drugs & Therapeutics for Oculomaxillofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Oculomaxillofacial Dysostosis

Genetic Tests for Oculomaxillofacial Dysostosis

Genetic tests related to Oculomaxillofacial Dysostosis:

# Genetic test Affiliating Genes
1 Oculomaxillofacial Dysostosis 30 SPECC1L

Anatomical Context for Oculomaxillofacial Dysostosis

MalaCards organs/tissues related to Oculomaxillofacial Dysostosis:

42
Bone, Eye

Publications for Oculomaxillofacial Dysostosis

Articles related to Oculomaxillofacial Dysostosis:

# Title Authors Year
1
Bilateral oblique facial clefts, rudimentary eyes and hydrocephalus in an aborted equine foetus. ( 28332242 )
2017
2
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
3
A rare case of multiple oblique facial clefts with supernumerary teeth: case report. ( 24294408 )
2012
4
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. ( 21703590 )
2011
5
[Skeleton reconstruction of oblique facial clefts using mandibular outer table]. ( 16011188 )
2005
6
Oblique facial clefts: a report of Tessier numbers 3, 4, 5, and 9 clefts. ( 8399272 )
1993
7
Translocation (1;22) in a child with bilateral oblique facial clefts. ( 3398011 )
1988
8
Classification of oblique facial clefts with microphthalmia. ( 432335 )
1979

Variations for Oculomaxillofacial Dysostosis

ClinVar genetic disease variations for Oculomaxillofacial Dysostosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh37 Chromosome 22, 24718192: 24718192
2 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh38 Chromosome 22, 24322224: 24322224

Expression for Oculomaxillofacial Dysostosis

Search GEO for disease gene expression data for Oculomaxillofacial Dysostosis.

Pathways for Oculomaxillofacial Dysostosis

GO Terms for Oculomaxillofacial Dysostosis

Cellular components related to Oculomaxillofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 filamentous actin GO:0031941 8.62 SPECC1L SPECC1L-ADORA2A

Biological processes related to Oculomaxillofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 8.62 SPECC1L SPECC1L-ADORA2A

Sources for Oculomaxillofacial Dysostosis

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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