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Disease Profile

Wiedemann-Steiner syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

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]

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.

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.

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

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]

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]

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 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

    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

      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.

        References

        1. 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/.
        2. 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/.
        3. 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/.
        4. 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/.
        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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072606/. Accessed 3/30/2015.
        6. 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/.

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