Lowry Wood syndrome

Title

Other Names:

Epiphyseal dysplasia, microcephaly and nystagmus; LWS

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

Orpha Number: 1824

Disease definition

Lowry-Wood syndrome is 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 (see this term) and coxa vara. Transmission appears to be autosomal recessive.

Visit the Orphanet disease page for more resources.

Last updated: 9/29/2008

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Epiphyseal dysplasia	Very frequent (present in 80%-99% of cases)
Irregular epiphyses	Very frequent (present in 80%-99% of cases)
Microcephaly	Very frequent (present in 80%-99% of cases)
Abnormality of retinal pigmentation	Frequent (present in 30%-79% of cases)
Arthralgia	Frequent (present in 30%-79% of cases)
Coxa vara	Frequent (present in 30%-79% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Abnormality of nail color	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the corpus callosum	Occasional (present in 5%-29% of cases)
Astigmatism	Occasional (present in 5%-29% of cases)
Brachydactyly	Occasional (present in 5%-29% of cases)
Delayed skeletal maturation	Occasional (present in 5%-29% of cases)
Dislocated radial head	Occasional (present in 5%-29% of cases)
Joint stiffness	Occasional (present in 5%-29% of cases)
Patellar dislocation	Occasional (present in 5%-29% of cases)
Platyspondyly	Occasional (present in 5%-29% of cases)
Visual impairment	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Intellectual disability, mild	-
Shallow acetabular fossae	-
Small epiphyses	-
Small for gestational age	-
Squared iliac bones	-

Last updated: 10/1/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

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