Rare Endocrinology News
Disease Profile
Cerebrooculonasal syndrome
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 66625
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 |
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 |
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 |
0000006 | ||
Broad philtrum | 0000289 | |
Cerebellar vermis hypoplasia | 0001320 | |
Cleft roof of mouth
|
0000175 | |
0001363 | ||
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Encephalocele | 0002084 | |
Frontal bossing | 0002007 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the |
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.