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Lowry-Wood Syndrome

Last updated April 25, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Lowry-Wood Syndrome (LWS) is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Epiphyseal Dysplasia, Microcephaly and Nystagmus
  • LWS (Lowry-Wood Syndrome)

What is Lowry-Wood Syndrome? (Definition/Background Information)

  • Lowry-Wood Syndrome (LWS) 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 and coxa vara

(Source: Lowry-Wood Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Lowry-Wood Syndrome? (Age and Sex Distribution)

  • Lowry-Wood Syndrome is an extremely rare disorder with only about 10 cases being reported in the medical literature
  • The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Lowry-Wood Syndrome? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for Lowry-Wood Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Lowry-Wood Syndrome? (Etiology)

The cause of development of Lowry-Wood Syndrome is presently unknown.

What are the Signs and Symptoms of Lowry-Wood Syndrome?

The signs and symptoms of Lowry-Wood Syndrome vary, but may include the following:

  • Intellectual disability, mild
  • Shallow acetabular fossae
  • Small epiphyses
  • Small for gestational age
  • Squared iliac bones

Very frequently present symptoms in 80-99% of the cases:

  • Epiphyseal dysplasia
  • Irregular epiphyses
  • Microcephaly

Frequently present symptoms in 30-79% of the cases:

  • Abnormality of retinal pigmentation
  • Arthralgia
  • Coxa vara
  • Intellectual disability
  • Nystagmus

Occasionally present symptoms in 5-29% of the cases:

  • Abnormality of nail color
  • Aplasia/hypoplasia of the corpus callosum
  • Astigmatism
  • Brachydactyly
  • Delayed skeletal maturation
  • Dislocated radial head
  • Joint stiffness
  • Patellar dislocation
  • Platyspondyly
  • Visual impairment

(Source: Lowry-Wood Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is it Diagnosed?

Lowry-Wood Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications?

The complications of Lowry-Wood Syndrome may include:

  • Physical deformities
  • Walking difficulty
  • Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Lowry-Wood Syndrome Treated?

Currently, there is no cure for Lowry-Wood Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develop.

How can Lowry-Wood Syndrome be Prevented?

  • Currently, Lowry-Wood Syndrome may not be preventable, since the cause of the disorder is unknown
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Lowry-Wood Syndrome? (Outcomes/Resolutions)

  • The prognosis of Lowry-Wood Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Lowry-Wood Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 25, 2018
Last updated: April 25, 2018