Renpenning syndrome 1

Title

Other Names:

RENS1; Mental retardation, X-linked Renpenning type; Sutherland-Haan X-linked mental retardation syndrome; 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; MRXS3; MRXS8; Mental retardation, X-linked, syndromic 8; Sutherland-Haan syndrome See More

Categories:

Congenital and Genetic Diseases

Summary Summary

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

Symptoms Symptoms

The most common features of Renpenning syndrome include moderate to severe intellectual disability, microcephaly (small head size), short stature, and small testes.^[4]^[2]^[3] Differences in facial features found in individuals with this condition include a long and narrow face, upslanting eye openings (palpebral fissures), a long rounded (bulbous) nose with a low-hanging separation between the nostrils, cupped ears, and short philtrum (the area between the nose and upper lip).^[1] Global developmental delays are present in all individuals, with significant delays in milestones such as walking and talking.^[4] Individuals with Renpenning syndrome may also experience seizures and muscle wasting (atrophy).^[1] About 20% of affected individuals also have birth defects, such as a gap or split in structures that make up the eye (coloboma), a split in the roof of the mouth (cleft palate), heart malformations, and malformations of the anus.^[4]^[2]^[1]

Signs and symptoms have been found only in males; known female carriers are noted to have normal facial features, growth, development, and intelligence.^[2]

Last updated: 11/28/2016

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)
Microphthalmia	Occasional (present in 5%-29% of cases)
Renal hypoplasia	Occasional (present in 5%-29% of cases)
Abnormality of the rib cage	-
Anal atresia	-
Anxiety	-
Atrial septal defect	-
Blindness	-
Brachycephaly	-
Bulbous nose	-
Camptodactyly	-
Cataract	-
Cerebral atrophy	-
Clinodactyly of the 5th finger	-
Coloboma	-
Cupped ear	-
Decreased testicular size	-
Epicanthus	-
Hearing impairment	-
High palate	-
Hypermetropia	-
Hyperreflexia	-
Hypospadias	-
Intellectual disability	-
Joint contracture of the hand	-
Long face	-
Macrotia	-
Malar flattening	-
Microcephaly	-
Micrognathia	-
Narrow face	-
Narrow foot	-
Narrow mouth	-
Nasal speech	-
Pectus excavatum	-
Pes cavus	-
Phimosis	-
Poor suck	-
Protruding ear	-
Scoliosis	-
Seizures	-
Short philtrum	-
Situs inversus totalis	-
Sparse hair	-
Sparse lateral eyebrow	-
Spasticity	-
Strabismus	-
Tetralogy of Fallot	-
Triangular face	-
Upslanted palpebral fissure	-
Ventricular septal defect	-
Wide nasal bridge	-
X-linked recessive inheritance	-

Last updated: 9/1/2017

Cause Cause

Renpenning syndrome is caused by mutations in the polyglutamine-binding protein 1 gene (PQBP1).^[1]^[2]^[3]

Last updated: 2/3/2016

Inheritance Inheritance

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.^[2]^[3]

Last updated: 2/3/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

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

Prognosis Prognosis

In most cases, life expectancy does not appear to be shortened for those with Renpenning syndrome.^[2]

Last updated: 2/3/2016

Do you have updated information on this condition? Let us know.

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.

Patient Registry

EuroMX Consortium Registry
Department of Human Genetics Radboud University Nijmegen Medical Centre
6500 HB Nijmegen
P.O. Box 9101
Netherlands
Telephone: +31 24 3614017
Fax: +31 24 3540488
E-mail: a.debrouwer@antrg.umcn.nl
Website: http://www.euromrx.com/

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

American Association on Intellectual and Developmental Disabilities
444 North Capitol Street, NW
Suite 846
Washington, DC 20001-1512
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: http://www.aaidd.org
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: info@sdbp.org
Website: http://www.sdbp.org/index.cfm

Do you know of an organization? Send us your suggestions.

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.

Where to Start

You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
Genetics Home Reference (GHR) contains information on Renpenning syndrome 1. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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 Renpenning syndrome 1. Click on the link to view a sample search on this topic.

News & Events News & Events

News

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GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer

Have a question? Contact a GARD Information Specialist.

References References

Renpenning syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/renpenning-syndrome.
Des Portes, Vincent. Renpenning syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242.
McKusick, VA. Renpenning Syndrome 1. In: Kniffin, CL. Online Mendelian Inheritance in Man (OMIM). 9/13/2016; http://www.omim.org/entry/309500.
Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. 2005; 134(4):415-421. http://www.ncbi.nlm.nih.gov/pubmed/15782410.