Renpenning syndrome

What causes Renpenning syndrome?

Renpenning syndrome is caused by mutations in the polyglutamine-binding protein 1 gene ( PQBP1).

Last updated on 05-01-20

How is Renpenning syndrome inherited?

Renpenning syndrome is inherited in an X-linked recessive manner. 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.

Last updated on 05-01-20

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. 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 on 05-01-20

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?

Sleeping difficulties have been described in individuals with Renpenning syndrome. While this symptom was not present in all cases reported in the medical literature, one study of multiple cases of Renpenning syndrome noted sleeping difficulties in 10 out of 13 individuals. Per the authors of this article, the difficulties became apparent in early childhood and resolved after school age.

Last updated on 05-01-20

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. 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.

Last updated on 05-01-20

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. Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. Management involves early intervention by trained therapists along with treatment of any associated features.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url: http://www.aaidd.org
Name: The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive
McLean, VA, 22101, United States
Phone: 703-556-9222 Email: info@sdbp.org Url: http://www.sdbp.org/index.cfm

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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