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 57 53 59 29 73

Characteristics:

Orphanet epidemiological data:

59
cerebrooculonasal syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cerebrooculonasal syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cerebrooculonasal Syndrome

NIH Rare Diseases : 53 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 high palate

Description from OMIM: 605627

Related Diseases for Cerebrooculonasal Syndrome

Symptoms & Phenotypes for Cerebrooculonasal Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cerebrooculonasal Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 large face 59 32 hallmark (90%) Very frequent (99-80%) HP:0100729
5 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
6 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
7 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
8 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
9 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
10 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
11 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
12 abnormality of nervous system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012639
13 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
14 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
15 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
16 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
17 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
18 abnormality of the tragus 59 32 frequent (33%) Frequent (79-30%) HP:0009912
19 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
20 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
21 facial cleft 59 32 frequent (33%) Frequent (79-30%) HP:0002006
22 single median maxillary incisor 59 32 frequent (33%) Frequent (79-30%) HP:0006315
23 underdeveloped supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0009891
24 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
25 abnormality of the nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0005288
26 u-shaped upper lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0010806
27 macrocephaly 32 HP:0000256
28 malar flattening 32 HP:0000272
29 low-set ears 32 HP:0000369
30 frontal bossing 32 HP:0002007
31 hydrocephalus 32 HP:0000238
32 narrow palate 32 HP:0000189
33 short nose 32 HP:0003196
34 anteverted nares 32 HP:0000463
35 cleft palate 32 HP:0000175
36 prominent nasal bridge 32 HP:0000426
37 downturned corners of mouth 32 HP:0002714
38 craniosynostosis 32 HP:0001363
39 encephalocele 32 HP:0002084
40 hypoplasia of the corpus callosum 32 HP:0002079
41 broad philtrum 32 HP:0000289
42 sparse eyebrow 59 Frequent (79-30%)
43 cerebellar vermis hypoplasia 32 HP:0001320
44 posteriorly rotated ears 32 HP:0000358
45 hypoplastic male external genitalia 32 HP:0000050
46 proboscis 32 HP:0012806
47 sparse and thin eyebrow 32 frequent (33%) HP:0000535

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 29

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 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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