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Disease Profile
Lowry Wood 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.
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Age of onset
Neonatal
ICD-10
Q87.5
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)
Epiphyseal dysplasia, microcephaly and nystagmus; LWS
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1824
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 | ||
Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Abnormally small skull
Small head circumference
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
[ more ] |
0000252 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Arthralgia |
Joint pain
|
0002829 |
Coxa vara | 0002812 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
5%-29% of people have these symptoms | ||
Abnormality of nail color |
Abnormality of nail colour
|
0100643 |
Aplasia/Hypoplasia of the |
0007370 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Short fingers or toes
|
0001156 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Dislocated radial head | 0003083 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
1%-4% of people have these symptoms | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Global |
0001263 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
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 |
Multiple epiphyseal dysplasia | 0002654 | |
Multiple joint dislocation | 0012095 | |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Peripheral visual field loss |
Loss of peripheral vision
|
0007994 |
Pigmentary retinopathy | 0000580 | |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Squared iliac bones | 0003177 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Shallow acetabular fossae | 0003182 | |
Small epiphyses |
Small end part of bone
|
0010585 |
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 Lowry Wood syndrome. Click on the link to view a sample search on this topic.