Disease Profile

Lowry Wood 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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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Other Names (AKA)

Epiphyseal dysplasia, microcephaly and nystagmus; LWS

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 1824

Definition
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.

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
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
Irregular epiphyses
Irregular end part of long bone
0010582
Microcephaly
Abnormally small skull
Small head circumference
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference

[ more ]

0000252
Short stature
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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nystagmus
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 corpus callosum
0007370
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Brachydactyly
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 contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Global developmental delay
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
Autosomal recessive inheritance
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.