MCID: OCL040
MIFTS: 26

Oculomaxillofacial Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Oculomaxillofacial Dysostosis

MalaCards integrated aliases for Oculomaxillofacial Dysostosis:

Name: Oculomaxillofacial Dysostosis 52 58 29 6 71
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 52
Richieri Costa Gorlin Syndrome 52
Richieri-Costa-Gorlin Syndrome 58
Oblique Facial Clefts 52
Oblique Facial Cleft 58
Orbitofacial Cleft 58

Characteristics:

Orphanet epidemiological data:

58
oblique facial cleft
Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537736
ICD10 via Orphanet 33 Q18.8 Q75.1
UMLS via Orphanet 72 C1838348
UMLS 71 C1838348

Summaries for Oculomaxillofacial Dysostosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1794 Definition Oculomaxillofacial 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 facial cleft. 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

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
2 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
6 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
7 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
8 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
9 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
10 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
11 sparse or absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0200102
12 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
13 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
14 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
15 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
16 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
17 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
18 abnormality of the humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003063
19 abnormality of the eyelashes 58 Frequent (79-30%)
20 abnormality of the eyelid 58 Occasional (29-5%)
21 abnormality of the nose 58 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:

40
Bone, Eye

Publications for Oculomaxillofacial Dysostosis

Articles related to Oculomaxillofacial Dysostosis:

# Title Authors PMID Year
1
Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity. 61
7856656 1994

Variations for Oculomaxillofacial Dysostosis

ClinVar genetic disease variations for Oculomaxillofacial Dysostosis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPECC1L NM_015330.5(SPECC1L):c.1244A>C (p.Gln415Pro)SNV Pathogenic 31101 rs387907108 22:24718192-24718192 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 microtubule organizing center GO:0005815 8.96 SPECC1L-ADORA2A SPECC1L
2 filamentous actin GO:0031941 8.62 SPECC1L-ADORA2A SPECC1L

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-ADORA2A SPECC1L

Sources for Oculomaxillofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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