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Disease Profile
Ruvalcaba 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.
Unknown
Age of onset
Infancy
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 3121
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 | ||
Short fingers or toes
|
0001156 | |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Narrow mouth |
Small mouth
|
0000160 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
Drooping upper eyelid
|
0000508 | |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Small hand |
Disproportionately small hands
|
0200055 |
Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
30%-79% of people have these symptoms | ||
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of vertebral epiphysis morphology |
Abnormal shape of the end part of the vertebra bone
|
0100734 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
High forehead | 0000348 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Pectus carinatum |
Pigeon chest
|
0000768 |
0002650 | ||
5%-29% of people have these symptoms | ||
Abnormal electroretinogram | 0000512 | |
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Abnormality of visual evoked potentials | 0000649 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hematuria |
Blood in urine
|
0000790 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Inguinal hernia | 0000023 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the breast | 0000769 | |
0000006 | ||
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Narrow nose |
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ] |
0000460 |
Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short palm | 0004279 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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 Ruvalcaba syndrome. Click on the link to view a sample search on this topic.