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Disease Profile

Weaver 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

Q87.3

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)

Weaver Smith syndrome; WSS; Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition.[1][2][3] Treatment is based on the signs and symptoms present in each person.[3]

Symptoms

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
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormally low-pitched voice
0010300
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Deep-set nails
0001814
Global developmental delay
0001263
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic toenails
Underdeveloped toenails
0001800
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long philtrum
0000343
Low-set, posteriorly rotated ears
0000368
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macrotia
Large ears
0000400
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Tall stature
Increased body height
0000098
Thin nail
Thin nails
0001816
30%-79% of people have these symptoms
Broad foot
Broad feet
Wide foot

[ more ]

0001769
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Camptodactyly of finger
Permanent flexion of the finger
0100490
Deep philtrum
0002002
Feeding difficulties in infancy
0008872
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Inguinal hernia
0000023
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Large hands
large hand
0001176
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Finger syndactyly
0006101
Hypoplasia of penis
Underdeveloped penis
0008736
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Pes cavus
High-arched foot
0001761
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe

[ more ]

0001852
Scoliosis
0002650
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Percent of people who have these symptoms is not available through HPO
Absent septum pellucidum
0001331
Autosomal dominant inheritance
0000006
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708
Calcaneovalgus deformity
0001848
Camptodactyly
Permanent flexion of the finger or toe
0012385
Clinodactyly
Permanent curving of the finger
0030084
Coxa valga
0002673
Cutis laxa
Loose and inelastic skin
0000973
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
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Dilation of lateral ventricles
0006956

Diagnosis

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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

      Organizations Providing General Support

        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.

        Where to Start

        • Genetics Home Reference contains information on Weaver syndrome. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • 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 Weaver syndrome. Click on the link to view a sample search on this topic.

            References

            1. Weaver syndrome. Genetics Home Reference. March 2016; https://ghr.nlm.nih.gov/condition/weaver-syndrome.
            2. Weaver syndrome. Orphanet. January 2016; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447.
            3. Katrina Tatton-Brown, BMBCh, MD and Nazneen Rahman, BMBCh, PhD. EZH2-Related Overgrowth. GeneReviews. August 2015; https://www.ncbi.nlm.nih.gov/books/NBK148820/.

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