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Cerebro-oculo-nasal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms	54
OrphanetNr:	66625
OMIM Id:	605627
ICD-10:	Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	10 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic syndrome with a central nervous system malformation as major feature
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000054)	Micropenis	Frequent [Orphanet]	257 / 7739
2	(HPO:0000050)	Hypoplastic male external genitalia		10 / 7739
3	(HPO:0000337)	Broad forehead	Very frequent [Orphanet]	116 / 7739
4	(HPO:0009804)	Reduced number of teeth	Frequent [Orphanet]	137 / 7739
5	(HPO:0100840)	Aplasia/Hypoplasia of the eyebrow	Frequent [Orphanet]	117 / 7739
6	(HPO:0002007)	Frontal bossing		366 / 7739
7	(HPO:0009932)	Single naris	Very frequent [Orphanet]	10 / 7739
8	(HPO:0000528)	Anophthalmia		42 / 7739
9	(HPO:0000289)	Broad philtrum		11 / 7739
10	(HPO:0000272)	Malar flattening		277 / 7739
11	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
12	(HPO:0000256)	Macrocephaly		298 / 7739
13	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
14	(HPO:0001363)	Craniosynostosis		132 / 7739
15	(HPO:0000343)	Long philtrum	Frequent [Orphanet]	262 / 7739
16	(HPO:0100729)	Large face	Very frequent [Orphanet]	19 / 7739
17	(HPO:0000218)	High palate		356 / 7739
18	(HPO:0009891)	Underdeveloped supraorbital ridges	Very frequent [Orphanet]	36 / 7739
19	(HPO:0000426)	Prominent nasal bridge		121 / 7739
20	(HPO:0011220)	Prominent forehead		137 / 7739
21	(HPO:0000248)	Brachycephaly	Very frequent [Orphanet]	222 / 7739
22	(HPO:0002006)	Facial cleft	Frequent [Orphanet]	25 / 7739
23	(HPO:0002714)	Downturned corners of mouth		98 / 7739
24	(HPO:0003196)	Short nose		264 / 7739
25	(HPO:0002084)	Encephalocele		70 / 7739
26	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
27	(HPO:0000535)	Sparse and thin eyebrow		76 / 7739
28	(HPO:0000582)	Upslanted palpebral fissure	Very frequent [Orphanet]	185 / 7739
29	(HPO:0000653)	Sparse eyelashes		58 / 7739
30	(HPO:0000463)	Anteverted nares		305 / 7739
31	(HPO:0006315)	Single median maxillary incisor		13 / 7739
32	(HPO:0000189)	Narrow palate		45 / 7739
33	(HPO:0000175)	Cleft palate		349 / 7739
34	(HPO:0010806)	U-Shaped upper lip vermilion		18 / 7739
35	(HPO:0200102)	Sparse or absent eyelashes	Frequent [Orphanet]	64 / 7739
36	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Very frequent [Orphanet]	142 / 7739
37	(HPO:0000572)	Visual loss	Very frequent [Orphanet]	272 / 7739
38	(HPO:0009912)	Abnormality of the tragus	Frequent [Orphanet]	12 / 7739
39	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
40	(HPO:0000369)	Low-set ears		372 / 7739
41	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
42	(HPO:0012639)	Abnormality of nervous system morphology	Frequent [Orphanet]	25 / 7739
43	(HPO:0001249)	Intellectual disability		1089 / 7739
44	(HPO:0001162)	Postaxial hand polydactyly	Frequent [Orphanet]	119 / 7739
45	(HPO:0100259)	Postaxial polydactyly		85 / 7739
46	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739
47	(OMIM)	Proboscis-like nares		1 / 7739
48	(HPO:0000238)	Hydrocephalus		278 / 7739
49	(HPO:0002079)	Hypoplasia of the corpus callosum		161 / 7739
50	(HPO:0400004)	Long ear	Frequent [Orphanet]	94 / 7739
51	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
52	(OMIM)	Midline nasal appendage		1 / 7739
53	(OMIM)	Asymmetric cranial vault		1 / 7739
54	(HPO:0001320)	Cerebellar vermis hypoplasia		57 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Richieri-Costa and Guion-Almeida (1993) reported 2 unrelated girls with an MCA/MR syndrome of clinical anophthalmia, abnormal nares, central nervous system anomalies, and mental retardation. They referred to the condition as cerebrooculonasal syndrome. Guion-Almeida et al. (2000) reported 2 ... Richieri-Costa and Guion-Almeida (1993) reported 2 unrelated girls with an MCA/MR syndrome of clinical anophthalmia, abnormal nares, central nervous system anomalies, and mental retardation. They referred to the condition as cerebrooculonasal syndrome. Guion-Almeida et al. (2000) reported 2 additional cases, one with and one without structural anomalies of the central nervous system and clinical anophthalmia, and both with abnormal nares. The first case reported by Guion-Almeida et al. (2000) was a female with brachycephaly, a large forehead with a depression in the midline, ocular hypertelorism, telecanthus, epicanthic folds, downslanting palpebral fissures, medial abnormally placed eyebrows, and sparse eyelashes. The nose was abnormally modeled with a proboscis-like appearance and, on the right, a small and atypical appendage-like structure. She also had malar hypoplasia, a large philtrum, a high-arched and narrow palate, and posteriorly rotated ears with a hypoplastic tragus and large conchae. Development was very mildly delayed. The second case was a male with normal growth but macrobrachycephaly, a large forehead with midline capillary hemangioma, flat supraorbital ridges, ocular hypertelorism, epicanthic folds, downslanting palpebral fissures, sparse and medially absent eyebrows, sparse eyelashes, and bilateral clinical anophthalmia. The nose was abnormally shaped and proboscis-like with marked hypoplasia of the left nostril. He also had malar hypoplasia, an atypical cleft lip, a high-arched palate, bilateral pedunculated postaxial polydactyly, genital hypoplasia, and delayed neuropsychologic development. At age 2 years he was unable to walk alone and spoke few words. Both patients showed a single maxillary central incisor. Guion-Almeida et al. (2007) reported on 13 new patients with cerebrooculonasal syndrome and reviewed 7 previously described cases. The female to male sex ratio was 12:8. All cases occurred sporadically, and no consanguinity was present. No chromosomal abnormalities were found. The authors found marked clinical variability among the patients, but noted that the nasal configuration appeared to be unique and diagnostic. They identified a mutation, a V908G change in the PTCH gene (601309.0015), in only 1 of their patients (patient 7). Ribeiro et al. (2006) had identified the same mutation in the same patient, whom they had diagnosed with holoprosencephaly-7 (HPE7; 610828). Kokitsu-Nakata et al. (2009) described the cerebrooculonasal syndrome in the first child of nonconsanguineous parents. He had brachycephaly, wide forehead, bilateral frontal encephalocele, malar hypoplasia, hypertelorism, bilateral anophthalmia, bilateral proboscis-like nares, cleft lip, abnormal palate, abnormal left auricular lobule, and cryptorchidism.

Symptoms & Signs

	Field	Query
	Disease
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