Rare Nephrology News

Disease Profile

Cerebrooculonasal syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 66625

Definition
Cerebro-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 description
Additional 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 diagnosis
No case of prenatal diagnosis has been reported.

Genetic counseling
All 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.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the nares
Abnormality of the nostrils
0005288
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Blindness
0000618
Brachycephaly
Short and broad skull
0000248
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Large face
Big face
0100729
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
30%-79% of people have these symptoms
Abnormal nervous system morphology
Abnormal shape of nervous system
0012639
Abnormality of the tragus
0009912
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Facial cleft
Cleft of the face
0002006
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypoplasia of penis
Underdeveloped penis
0008736
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long philtrum
0000343
Low-set, posteriorly rotated ears
0000368
Macrotia
Large ears
0000400
Microdontia
Decreased width of tooth
0000691
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Single median maxillary incisor
Only one upper front tooth
0006315
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

0000687
5%-29% of people have these symptoms
U-Shaped upper lip vermilion
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth

[ more ]

0010806
Percent of people who have these symptoms is not available through HPO
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Autosomal dominant inheritance
0000006
Broad philtrum
0000289
Cerebellar vermis hypoplasia
0001320
Cleft palate
Cleft roof of mouth
0000175
Craniosynostosis
0001363
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Encephalocele
0002084
Frontal bossing
0002007
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia

[ more ]

0000050
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Malar flattening
Zygomatic flattening
0000272
Narrow palate
Narrow roof of mouth
0000189
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Proboscis
0012806
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.