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 (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings. People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems; and seizures. Because WSS has been reported in a small number of individuals, there is not much information on how the symptoms and features change over time. WSS is caused by genetic changes in the KMT2A gene. Most individuals with WSS are the only ones in their family with this condition. In a few cases, WSS has been inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms and clinical exam, and it is confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.^[1]^[2]^[3]^[4]

Last updated: 11/19/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with Wiedemann-Steiner syndrome (WSS). These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Signs and symptoms may include:^[1]^[4]

Growth delay before and after birth
Excessive hair on the elbows, arms and/or back (hypertrichosis)
Wide spaced eyes
Narrow palpebral fissures
Thick eyebrows
Intellectual disability
Developmental delay
Low muscle tone (hypotonia)

Other signs and symptoms may include skeletal and eye abnormalities, feeding problems in early childhood, and seizures. Adults with WSS have been reported to have behavior issues.^[3] About 60 cases of WSS have been described in the medical literature, and little is known about how this condition changes over time.

Last updated: 11/19/2020

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

Last updated: 2/1/2021

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

Cause Cause

Wiedemann-Steiner syndrome occurs when the KMT2A gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[5]^[3]

Last updated: 11/19/2020

Inheritance Inheritance

Wiedemann-Steiner syndrome (WSS) usually occurs due to a new genetic variant (de novo), and there is no family history of WSS.^[6] In some families, WSS has been inherited in an autosomal dominant pattern.^[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one pathogenic variant on one copy of a gene is necessary to have the condition. The variant can be inherited from either parent.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 11/19/2020

Diagnosis Diagnosis

Wiedemann-Steiner syndrome is diagnosed based on the symptoms, clinical exam and may be confirmed by the results of genetic testing. Imaging studies are sometimes helpful as well.^[1]^[3]

Last updated: 11/19/2020

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 Treatment

Treatment of Wiedemann-Steiner syndrome is focused on managing the symptoms.^[1]^[3]

Specialists involved in the care of someone with Wiedemann-Steiner syndrome may include:

Neurologist
Gastroenterologist
Developmental and behavioral specialists
Medical geneticist

Last updated: 11/19/2020

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 MedlinePlus Genetics.

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

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, et al. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clin Genet. Jul 2018; 94(1):141-152. https://pubmed.ncbi.nlm.nih.gov/29574747/.
Aggarwal A, Rodriguez-Buritica DF, Northrup H. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. Eur J Med Genet. Jun 2017; 60(6):285-288. https://pubmed.ncbi.nlm.nih.gov/28359930/.
Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. Am J Med Genet A. Feb 2019; 179(2):300-305. https://pubmed.ncbi.nlm.nih.gov/30549396/.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. Am J Med Genet A. 2017 Feb;173(2):510-514.. Feb 2017; 173(2):510-514. https://pubmed.ncbi.nlm.nih.gov/27759909/.
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.
Grangeia A, Leão M, Moura CP. Wiedemann-Steiner syndrome in two patients from Portugal. Am J Med Genet A. Jan 2020; 182(1):25-28. https://pubmed.ncbi.nlm.nih.gov/31710778/.