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Disease Profile
Chudley Rozdilsky 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.
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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q87.8
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
Other names (AKA)
Chudley syndrome
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.
Orpha Number: 3068
Definition
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 | ||
| Abnormal muscle fiber morphology | 0004303 | |
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Disproportionate tall stature | 0001519 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Facial palsy |
Bell's palsy
|
0010628 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypogonadotropic |
0000044 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
|
Drooping upper eyelid
|
0000508 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
| Sparse body hair | 0002231 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| 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 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
| 5%-29% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Tracheoesophageal fistula | 0002575 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
| 0000007 | ||
| Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Myopathy |
Muscle tissue disease
|
0003198 |
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chudley Rozdilsky syndrome. Click on the link to view a sample search on this topic.