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Disease Profile

Renpenning syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Sutherland-Haan X-linked intellectual disability syndrome; X-linked intellectual disability with spastic diplegia; MRXS3;

Categories

Congenital and Genetic Diseases

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]

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cachexia
Wasting syndrome
0004326
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microcephaly
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium

[ more ]

0000252
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Alopecia
Hair loss
0001596
Decreased testicular size
Small testis
Small testes

[ more ]

0008734
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hypospadias
0000047
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
Mandibular prognathia
Increased projection of lower jaw
Big lower jaw
Prominent lower jaw
Prominent chin
Large lower jaw
Increased size of lower jaw

[ more ]

0000303
Narrow face
Decreased width of face
Decreased breadth of face

[ more ]

0000275
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Round ear
0100830
Short philtrum
0000322
Sprengel anomaly
High shoulder blade
0000912
Thin eyebrow
Thin eyebrows
0045074
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
5%-29% of people have these symptoms
Abnormal hair laboratory examination
0003328
Abnormal thumb morphology
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity

[ more ]

0001172
Anal atresia
Absent anus
0002023
Broad columella
0010761
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Diabetes mellitus
0000819
Heterotaxy
0030853
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Iris coloboma
Cat eye
0000612
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Macrodontia
Increased width of tooth
0001572
Microphthalmia
Abnormally small eyeball
0000568
Narrow mouth
Small mouth
0000160
Pectus excavatum
Funnel chest
0000767
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Seizure
0001250
Sensorineural hearing impairment
0000407
Strabismus
Squint eyes
Squint
Cross-eyed

[ more ]

0000486
1%-4% of people have these symptoms
Blindness
0000618
Brachycephaly
Short and broad skull
0000248
Brittle hair
0002299
Bulbous nose
0000414
Coloboma
Notched pupil
0000589
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears

[ more ]

0000378
Death in childhood
0003819
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Low hanging columella

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

    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]

    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

      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.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Renpenning syndrome. This website is maintained by the National Library of Medicine.

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

          References

          1. Renpenning syndrome. Genetics Home Reference. June, 2012; https://ghr.nlm.nih.gov/condition/renpenning-syndrome.
          2. Des Portes, Vincent. Renpenning syndrome. Orphanet. June 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242.
          3. McKusick, VA. Renpenning Syndrome 1. In: Kniffin, CL. Online Mendelian Inheritance in Man (OMIM). 9/13/2016; https://www.omim.org/entry/309500.
          4. 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. https://www.ncbi.nlm.nih.gov/pubmed/15782410.

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