MCID: OCL040
MIFTS: 29

Oculomaxillofacial Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Oculomaxillofacial Dysostosis

MalaCards integrated aliases for Oculomaxillofacial Dysostosis:

Name: Oculomaxillofacial Dysostosis 53 59 29 6 73
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 53
Richieri Costa Gorlin Syndrome 53
Richieri-Costa-Gorlin Syndrome 59
Oblique Facial Clefts 53

Classifications:



External Ids:

Orphanet 59 ORPHA1794
MESH via Orphanet 45 C537736
UMLS via Orphanet 74 C1838348
ICD10 via Orphanet 34 Q75.1
UMLS 73 C1838348

Summaries for Oculomaxillofacial Dysostosis

NIH Rare Diseases : 53 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:

# 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 congenital hydrocephalus 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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
2 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
3 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
7 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
9 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
10 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
11 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
12 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
13 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
14 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
15 facial cleft 59 32 frequent (33%) Frequent (79-30%) HP:0002006
16 median cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0000161
17 abnormality of the humerus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003063
18 sparse or absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0200102
19 abnormality of the eyelashes 59 Frequent (79-30%)
20 abnormality of the eyelid 59 Occasional (29-5%)
21 abnormality of the nose 59 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 29 SPECC1L

Anatomical Context for Oculomaxillofacial Dysostosis

MalaCards organs/tissues related to Oculomaxillofacial Dysostosis:

41
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
[Skeleton reconstruction of oblique facial clefts using mandibular outer table]. ( 16011188 )
2005
5
Oblique facial clefts: a report of Tessier numbers 3, 4, 5, and 9 clefts. ( 8399272 )
1993
6
Translocation (1;22) in a child with bilateral oblique facial clefts. ( 3398011 )
1988
7
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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