Wiedemann-Steiner syndrome

Title

Other Names:

Hairy elbows, short stature, facial dysmorphism, and developmental delay; Wiedemann Grosse Dibbern syndrome; WDSTS; Hairy elbows, short stature, facial dysmorphism, and developmental delay; Wiedemann Grosse Dibbern syndrome; WDSTS; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome See More

Summary Summary

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. ^[1]^[2]^[3] This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception.^[4] Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.^[5]

Last updated: 4/17/2015

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
30%-79% of people have these symptoms
Abnormality of the elbow	Abnormality of the elbows	0009811
Accelerated skeletal maturation	Advanced bone age Early bone maturation [ more ]	0005616
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Anxiety	Excessive, persistent worry and fear	0000739
Congenital, generalized hypertrichosis		0004540
Delayed gross motor development	Delayed motor skills	0002194
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Growth hormone deficiency		0000824
Hyperactivity	More active than typical	0000752
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Long philtrum		0000343
Low frustration tolerance		0000744
Muscular hypotonia	Low or weak muscle tone	0001252
Postnatal growth retardation	Growth delay as children	0008897
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Short attention span	Poor attention span Problem paying attention [ more ]	0000736
Short palpebral fissure	Short opening between the eyelids	0012745
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Thin upper lip vermilion	Thin upper lip	0000219
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
5%-29% of people have these symptoms
Abnormal corpus callosum morphology		0001273
Aplasia/Hypoplasia of the ribs	Absent/small ribs Absent/underdeveloped ribs [ more ]	0006712
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Constipation		0002019
Dilatation of renal calices		0100581
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Flat face	Flat facial shape	0012368
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Generalized hirsutism	Excessive hairiness over body	0002230
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High forehead		0000348
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperextensibility at elbow		0010485
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Pectus excavatum	Funnel chest	0000767
Psychomotor deterioration		0002361
Ptosis	Drooping upper eyelid	0000508
Rhizomelia	Disproportionately short upper portion of limb	0008905
Sacral dimple	Spinal dimple	0000960
Seizures	Seizure	0001250
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Synophrys	Monobrow Unibrow [ more ]	0000664
Telecanthus	Corners of eye widely separated	0000506
Webbed neck	Neck webbing	0000465
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Broad-based gait	Wide based walk	0002136
Depressed nasal tip	Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ]	0000437
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Global developmental delay		0001263
Narrow palpebral fissure	Small opening between the eyelids	0045025
Short middle phalanx of finger	Short middle bone of finger	0005819
Short stature	Decreased body height Small stature [ more ]	0004322
Short toe	Short toes Stubby toes [ more ]	0001831
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2019

Do you have updated information on this disease? We want to hear from you.

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Wiedemann-Steiner syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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 Supporting this Disease

Wiedemann-Steiner Syndrome Foundation (WSS Foundation)
1601 42nd Street
Sacramento, CA 95819
Telephone: 916-502-2120
E-mail: WSSFoundation@gmail.com
Website: http://www.wssfoundation.org

Do you know of an organization? We want to hear from you.

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.

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 Wiedemann-Steiner syndrome. Click on the link to view a sample search on this topic.

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.

Have a question? Contact a GARD Information Specialist.

References References

Miyake N, Tsurusaki Y, Koshimizu E, et al. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. March 25, 2015; http://www.ncbi.nlm.nih.gov/pubmed/?term=25810209. Accessed 3/30/2015.
Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM.. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet Part A. August 2014; 164A(8):2079-83. http://www.ncbi.nlm.nih.gov/pubmed/?term=24818805.
Koenig R, Meinecke P, Kuechler A, et al. Wiedemann-Steiner syndrome: three further cases. Am J Med Genet Part A. Sep 2010; 152A(9):2372-5. http://www.ncbi.nlm.nih.gov/pubmed/?term=20803650.
Jones WD, Dafou D, McEntagart M, et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet. Aug 10, 2012; 91(2):358-64. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539/. Accessed 3/30/2015.
Strom SP, Lozano R, Lee H, et al. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. May 1, 2014; 15:49. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072606/. Accessed 3/30/2015.