MCID: CRB164
MIFTS: 18

Cerebrooculonasal Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebrooculonasal Syndrome

MalaCards integrated aliases for Cerebrooculonasal Syndrome:

Name: Cerebrooculonasal Syndrome 58 54 60 30 74

Characteristics:

Orphanet epidemiological data:

60
cerebrooculonasal syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cerebrooculonasal syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cerebrooculonasal Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66625Disease definitionCerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.Clinical descriptionAdditional features include brachycephaly (the nose may have a proboscis-like appearance) and other facial anomalies such as large forehead, flat supraorbital ridges, ocular hypertelorism, epicanthic folds, downslanting palpebral fissures, sparse and medially absent eyebrows, sparse eyelashes, malar hypoplasia, large philtrum, high-arched palate possibly associated with atypical cleft lip and a single maxillary central incisor, posteriorly rotated ears with hypoplastic tragus and large conchae. Non facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia.Antenatal diagnosisNo case of prenatal diagnosis has been reported.Genetic counselingAll cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebrooculonasal Syndrome Related phenotypes are hypertelorism and large face

Description from OMIM: 605627

Related Diseases for Cerebrooculonasal Syndrome

Symptoms & Phenotypes for Cerebrooculonasal Syndrome

Human phenotypes related to Cerebrooculonasal Syndrome:

60 33 (showing 47, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 large face 60 33 hallmark (90%) Very frequent (99-80%) HP:0100729
3 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
4 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
5 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
6 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
7 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
8 anophthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000528
9 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
10 abnormality of the nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0005288
11 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
12 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
13 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
14 widely spaced teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000687
15 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
16 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
17 abnormality of nervous system morphology 60 33 frequent (33%) Frequent (79-30%) HP:0012639
18 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
19 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
20 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
21 abnormality of the tragus 60 33 frequent (33%) Frequent (79-30%) HP:0009912
22 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
23 facial cleft 60 33 frequent (33%) Frequent (79-30%) HP:0002006
24 single median maxillary incisor 60 33 frequent (33%) Frequent (79-30%) HP:0006315
25 sparse eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000653
26 sparse and thin eyebrow 33 frequent (33%) HP:0000535
27 u-shaped upper lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0010806
28 macrocephaly 33 HP:0000256
29 malar flattening 33 HP:0000272
30 low-set ears 33 HP:0000369
31 frontal bossing 33 HP:0002007
32 hydrocephalus 33 HP:0000238
33 narrow palate 33 HP:0000189
34 short nose 33 HP:0003196
35 anteverted nares 33 HP:0000463
36 cleft palate 33 HP:0000175
37 prominent nasal bridge 33 HP:0000426
38 downturned corners of mouth 33 HP:0002714
39 craniosynostosis 33 HP:0001363
40 encephalocele 33 HP:0002084
41 hypoplasia of the corpus callosum 33 HP:0002079
42 broad philtrum 33 HP:0000289
43 sparse eyebrow 60 Frequent (79-30%)
44 cerebellar vermis hypoplasia 33 HP:0001320
45 posteriorly rotated ears 33 HP:0000358
46 hypoplastic male external genitalia 33 HP:0000050
47 proboscis 33 HP:0012806

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
narrow palate
cleft palate
high-arched palate
downturned mouth
carp-like mouth

Head And Neck Face:
prominent forehead
malar hypoplasia
wide philtrum
flat supraorbital ridge

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows

Genitourinary External Genitalia Male:
hypoplastic genitalia

Head And Neck Eyes:
hypertelorism
anophthalmia
sparse eyelashes
epicanthal folds
sparse eyebrows

Neurologic Central Nervous System:
hydrocephalus
encephalocele
mental retardation
hypoplastic corpus callosum
hypoplastic cerebellar vermis

Head And Neck Nose:
short nose
anteverted nostrils
midline nasal appendage
elevated nasal bridge
proboscis-like nares

Skeletal Skull:
craniosynostosis
asymmetric cranial vault

Skeletal Hands:
postaxial polydactyly

Head And Neck Teeth:
single maxillary central incisor

Clinical features from OMIM:

605627

Drugs & Therapeutics for Cerebrooculonasal Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebrooculonasal Syndrome

Genetic Tests for Cerebrooculonasal Syndrome

Genetic tests related to Cerebrooculonasal Syndrome:

# Genetic test Affiliating Genes
1 Cerebrooculonasal Syndrome 30

Anatomical Context for Cerebrooculonasal Syndrome

Publications for Cerebrooculonasal Syndrome

Variations for Cerebrooculonasal Syndrome

Expression for Cerebrooculonasal Syndrome

Search GEO for disease gene expression data for Cerebrooculonasal Syndrome.

Pathways for Cerebrooculonasal Syndrome

GO Terms for Cerebrooculonasal Syndrome

Sources for Cerebrooculonasal Syndrome

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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