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
5%-29% of people have these symptoms
Constipation		0002019
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Sacral dimple	Spinal dimple	0000960
Seizures	Seizure	0001250
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Broad-based gait	Wide based walk	0002136
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
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
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Flat face	Flat facial shape	0012368
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
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
Synophrys	Monobrow Unibrow [ more ]	0000664
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Thin upper lip vermilion	Thin upper lip	0000219
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: 10/1/2018

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.

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.
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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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.