Wiedemann-Steiner syndrome - Rare Immunology News

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Disease Profile

Wiedemann-Steiner syndrome

<1 >

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

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.

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

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.

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.

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

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.

Not applicable

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 Wiedemann-Steiner Syndrome Foundation (WSS Foundation) 1601 42nd Street Sacramento, CA 95819 Telephone: 916-502-2120 E-mail: [email protected] Website: https://www.wssfoundation.org 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 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. https://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/. Rare Immunology News Advertisement Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Immunology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2024 Rare Immunology News. All Rights Reserved. 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Rare Immunology News

Rare Immunology News

Neonatal

Q87.1

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Summary

Symptoms

Cause

Diagnosis

Testing Resources

Treatment

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

References

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.

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