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Disease Profile
Wiedemann-Steiner syndrome
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.
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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.
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.
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.
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
Symptoms
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
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 |
0004540 | ||
Delayed gross motor development |
Delayed motor skills
|
0002194 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 |
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 |
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 |
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 | |
DiagnosisTesting Resources
OrganizationsSupport 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 moreThese 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
References
Rare Hematology News |