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Disease Information

Summary
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Summary
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.

About Renpenning syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear as a Newborn and as an Infant.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:GARD is not currently aware of organizations specific to this disease.
  • Categories:BirthdefectsGeneticdiseasesNeurologicaldiseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

X-Linked

When Do Symptoms of Renpenning syndrome Begin?

Symptoms of this disease may start to appear as a Newborn and as an Infant.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Newborn and as an Infant.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):

41 Symptoms

41 Symptoms

41 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abnormal hair laboratory examination
This section is currently in development.
Frequency
Uncommon
Occasional
Occasional
Always
Abnormal rib morphology

An anomaly of the rib.

Synonyms:Abnormality of the ribs; Rib abnormalities; Rib anomalies

Frequency
Uncommon
Frequent
Frequent
Always
Abnormal thumb morphology

An abnormal structure of the first digit of the hand.

Synonyms:Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity

Frequency
Uncommon
Occasional
Occasional
Always
Alopecia

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Synonyms:Hair loss

Frequency
Uncommon
Frequent
Frequent
Always
Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Synonyms:Absent anus

Frequency
Uncommon
Occasional
Occasional
Always
Broad columella

Increased width of the columella.

Synonyms:Columella, broad; Columella, wide; Fullness of columella; Increased width of columella

Frequency
Uncommon
Occasional
Occasional
Always
Cachexia

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

Synonyms:Wasting syndrome

Frequency
Uncommon
Very frequent
Very frequent
Always
Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity

Frequency
Uncommon
Occasional
Occasional
Always
Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Synonyms:Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis

Frequency
Uncommon
Occasional
Occasional
Always
Clinodactyly of the 5th finger

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Synonyms:Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger

Frequency
Uncommon
Occasional
Occasional
Always
Decreased testicular size

Reduced volume of the testicle (the male gonad).

Synonyms:Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia

Frequency
Uncommon
Frequent
Frequent
Always
Epicanthus

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.

Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds

Frequency
Uncommon
Frequent
Frequent
Always
Growth delay

A deficiency or slowing down of growth pre- and postnatally.

Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth

Frequency
Uncommon
Frequent
Frequent
Always
Heterotaxy

An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.

Synonyms:Heterotaxia

Frequency
Uncommon
Occasional
Occasional
Always
High hypermetropia

A severe form of hypermetropia with over +5.00 diopters.

Synonyms:High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness

Frequency
Uncommon
Occasional
Occasional
Always
High, narrow palate

The presence of a high and narrow palate.

Synonyms:Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth

Frequency
Uncommon
Occasional
Occasional
Always
Hypospadias

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

Synonyms:Hypospadia

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation

Frequency
Uncommon
Very frequent
Very frequent
Always
Iris coloboma

A coloboma of the iris.

Synonyms:Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris

Frequency
Uncommon
Occasional
Occasional
Always
Joint stiffness

Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.

Synonyms:Joint stiffness; Stiff joint; Stiff joints

Frequency
Uncommon
Occasional
Occasional
Always
Long face

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).

Synonyms:Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face

Frequency
Uncommon
Frequent
Frequent
Always
Macrodontia

Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.

Synonyms:Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia

Frequency
Uncommon
Occasional
Occasional
Always
Macrotia

Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).

Synonyms:Large ears; Large pinnae

Frequency
Uncommon
Frequent
Frequent
Always
Malar flattening

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening

Frequency
Uncommon
Frequent
Frequent
Always
Mandibular prognathia

Abnormal prominence of the chin related to increased length of the mandible.

Synonyms:Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism

Frequency
Uncommon
Frequent
Frequent
Always
Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference

Frequency
Uncommon
Very frequent
Very frequent
Always
Narrow face

Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).

Synonyms:Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face

Frequency
Uncommon
Frequent
Frequent
Always
Narrow mouth

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Synonyms:Microstomia; Narrow mouth; Small mouth; Small oral aperture

Frequency
Uncommon
Occasional
Occasional
Always
Pectus excavatum

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

Synonyms:Funnel chest

Frequency
Uncommon
Occasional
Occasional
Always
Prominent nose

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.

Synonyms:Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose

Frequency
Uncommon
Frequent
Frequent
Always
Round ear

Synonyms:Round ear

Frequency
Uncommon
Frequent
Frequent
Always
Seizure

A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Synonyms:Epileptic seizure; Seizures

Frequency
Uncommon
Occasional
Occasional
Always
Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Synonyms:Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss

Frequency
Uncommon
Occasional
Occasional
Always
Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe

Frequency
Uncommon
Very frequent
Very frequent
Always
Short philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.

Synonyms:Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum

Frequency
Uncommon
Frequent
Frequent
Always
Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Synonyms:Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy

Frequency
Uncommon
Very frequent
Very frequent
Always
Small face

A face that is short and narrow.

Synonyms:Facial hypoplasia; Hypoplasia of face; Microface; Microfacies; Short and narrow face; Small face; Small facies

Frequency
Uncommon
Frequent
Frequent
Always
Sprengel anomaly

A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).

Synonyms:Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity

Frequency
Uncommon
Frequent
Frequent
Always
Strabismus

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Synonyms:Cross-eyed; Squint; Squint eyes

Frequency
Uncommon
Occasional
Occasional
Always
Thin eyebrow

Decreased diameter of eyebrow hairs.

Synonyms:Thin eyebrow; Thin eyebrows

Frequency
Uncommon
Frequent
Frequent
Always
Upslanted palpebral fissure

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

Synonyms:Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures

Frequency
Uncommon
Frequent
Frequent
Always

Diagnostic Journey

On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:

  • Find disease-specific information to discuss with your healthcare providers.
  • Ask for diagnostic tests.
  • Request referrals to specialists.

Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis

Your Diagnostic Team

How can a diagnostic team help?

Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Renpenning syndrome may include:
 

Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.



Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.




Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024