National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Wiedemann-Steiner syndrome


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
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

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.

Showing of 69 |
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
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 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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Last updated: 7/1/2020

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.

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

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.

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

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.

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.

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.