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Diseases

Genetic and Rare Diseases Information Center (GARD)

Renpenning syndrome 1


Other Names for this Disease
  • RENS1
  • Mental retardation, X-linked Renpenning type
  • Sutherland-Haan X-linked mental retardation syndrome
  • X-linked mental retardation with spastic diplegia
  • X-linked mental retardation syndromic 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My adult son has Renpenning syndrome. My daughter, who is healthy, gave birth to a son three years ago with the same. We recently learned that this condition is genetic. I would like to learn more about this condition. Are speech delays common in Renpenning syndrome? Do individuals with this condition require less sleep than average? Could my family, which has French Canadian heritage, be related to the Canadian family described by Renpenning in the 1960s? What can we expect?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Renpenning syndrome?

Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. [1][2] Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. [1][2][3] Management involves early intervention by trained therapists along with treatment of any associated features. [2]
Last updated: 2/3/2016

What are the features of Renpenning syndrome?

The unifying features of Renpenning syndrome are mental retardation, microcephaly (small head size), short stature, and small testes.[4][5][6] The head tends to be narrow and tall with upslanting eye openings (palpebral fissures), abnormal nasal configuration, cupped ears, and short philtrum (the area between the nose and upper lip). The nose may appear long or bulb-like, with overhanging columella (the tissue that separates the nostrils). Less consistent manifestations include ocular colobomas, and anal anomalies.[6] The intellectual deficit is often severe and is present in 90 - 95% of cases. Less that 20% of cases have  major malformations, the most common being heart defects and cleft palate.[4][5] Global developmental delays are present in all individuals, with significant delays in milestones such as walking and talking.[4][7]
 
Last updated: 8/20/2009

Is speech delay or absence a common feature of Renpenning syndrome?

Speech delay is a common finding in individuals with Renpenning syndrome. In fact, it is not uncommon for individuals with this condition to delay first speech until ages 3 or 4 years. In some cases, speech may never develop. In these cases, it is not unusual for the individuals to understand simple conversations.[7] Studies have also shown that some individuals with Renpenning syndrome have speech dyspraxia or developmental dyspraxia. These conditions may  make it difficult for individuals with Renpenning syndrome to learn to speak or portray their thoughts into words.[8][9][10]

 
Last updated: 8/20/2009

My son did not sleep until he was three years old. My grandson is three and still requires very little sleep. Is there any association between sleep and Renpenning syndrome?

Our research did not uncover any particular association between sleep and Renpenning syndrome. We recommend that you speak with your grandson's physician if you have concerns regarding his sleeping patterns.
Last updated: 8/20/2009

What causes Renpenning syndrome?

Renpenning syndrome is caused by mutations in the polyglutamine-binding protein 1 gene (PQBP1).[1][2][3]
Last updated: 2/3/2016

How is Renpenning syndrome inherited?

Renpenning syndrome is inherited in an X-linked recessive manner.[1][2][3] A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must generally be present in both copies of the gene to cause the disorder. [1][2]

Last updated: 2/3/2016

How might Renpenning syndrome be treated?

There is currently no cure for Renpenning syndrome. Management may include early educational intervention and treatment of any associated symptoms such as heart defects or eye abnormalities.[2]
Last updated: 2/3/2016

What is the prognosis for individuals with Renpenning syndrome?

In most cases, life expectancy does not appear to be shortened for those with Renpenning syndrome. [2] 
Last updated: 2/3/2016

My family has some French Canadian heritage. Could the Renpenning syndrome in our family be traced back to the original family with Renpenning syndrome?

Although the first family described with Renpenning syndrome was from Canada, this condition is believed to be present in all racial and ethnic groups.[6] The Information Center cannot comment on your family's possible connection to the Canadian family described in the medical literature. However, if you wish to pursue this, a genetics professional may be able to assist you.
Last updated: 8/20/2009

References
Other Names for this Disease
  • RENS1
  • Mental retardation, X-linked Renpenning type
  • Sutherland-Haan X-linked mental retardation syndrome
  • X-linked mental retardation with spastic diplegia
  • X-linked mental retardation syndromic 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.