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Genetic and Rare Diseases Information Center (GARD)

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Meier-Gorlin syndrome

Other Names for this Disease
  • Ear, patella, short stature syndrome
  • Microtia, absent patellae, micrognathia syndrome
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Your Question

My daughter has just been diagnosed with Meier-Gorlin syndrome. I would like to learn more about it and what to expect in terms of weight and height gain, specific medical problems, and average life expectancy.

Our Answer

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What is Meier-Gorlin syndrome?

Meier-Gorlin syndrome is a condition that affects many parts of the body. This disorder is characterized by small ears, absent patellae (kneecaps), and short stature. There are several types of Meier-Gorlin syndrome, each classified by the specific genes affected. This condition has an autosomal recessive pattern of inheritance.[1]
Last updated: 5/14/2012

What are the signs and symptoms of Meier-Gorlin syndrome?

Most people with Meier-Gorlin syndrome have all three characteristic features of this condition, including small ears, absent or underdeveloped kneecaps (patellae), and short stature.[2] Additional features may include small head size, low-set ears, small mouth, full lips, cleft palate, small chin, and abnormalities of the genitalia or urinary tract. Affected individuals may experience feeding and breathing problems in early infancy.[2] The OMIM database provides a full list of the signs and symptoms of Meier-Gorlin syndrome.
Last updated: 5/14/2012

How does Meier-Gorlin syndrome affect a person's height and weight?

Birth length and birth weight are below the 3rd percentile in individuals with Meier-Gorlin syndrome due to prental growth problems. Affected individuals continue to experience slow growth during childhood and adolescence. People with Meier-Gorlin syndrome have short stature that varies in severity from mild to severe.
Last updated: 3/23/2010

What is the life expectancy for Meier-Gorlin syndrome?

Although we did not identify any reports of reduced life expectancy in Meier-Gorlin syndrome, serious complications of this condition include feeding and breathing problems in early infancy.[2] Case reports published in medical journals have described a few adults with this condition, including a 55-year-old woman.[3] The lifespan of individuals with Meier-Gorlin syndrome likely depends on the severity of the condition.
Last updated: 3/23/2010