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Disease Profile

Stuve-Wiedemann 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

Q78.8

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.

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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)

STWS; Schwartz-Jampel syndrome type 2; SJS2;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR). STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes. [1][2][3] However, some patients do survive to adolescence and beyond.[1][2] Survivors may develop spinal deformities, spontaneous fractures, bowing of the lower limbs, prominent joints, and dysautonomia symptoms (including temperature instability).[1][3] Treatment is mainly symptomatic and should include efforts to prevent choking, physical therapy and/or surgery to address bone abnormalities, efforts to prevent vision loss, and treatment for osteopenia or osteoporosis. Caution should be exercised when using anesthesia due to the predisposition to hyperthermia.[1] 

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 autonomic nervous system physiology
0012332
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Camptodactyly of finger
Permanent flexion of the finger
0100490
Feeding difficulties in infancy
0008872
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Metaphyseal widening
Broad wide portion of long bone
0003016
Micromelia
Smaller or shorter than typical limbs
0002983
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever

[ more ]

0001954
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal dysplasia
0002652
Thickened cortex of long bones
0000935
30%-79% of people have these symptoms
Apnea
0002104
Asthma
0002099
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Genu valgum
Knock knees
0002857
Impaired pain sensation
Decreased pain sensation
0007328
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Knee flexion contracture
0006380
Lacrimation abnormality
Abnormality of tear production
0000632
Oligohydramnios
Low levels of amniotic fluid
0001562
Osteopenia
0000938
Osteoporosis
0000939
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Scoliosis
0002650
Smooth tongue
Smooth surface of tongue
0010298
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Trismus
Lockjaw
0000211
5%-29% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Absent patellar reflexes
Absent knee jerk reflex
0006844
Decreased corneal reflex
0008000
Ectopic thyroid
Abnormal thryoid location
0100028
Hypothyroidism
Underactive thyroid
0000821
Muscular hypotonia
Low or weak muscle tone
0001252
Sacral dimple
Spinal dimple
0000960
Percent of people who have these symptoms is not available through HPO
Abnormal metaphyseal trabeculation
0005089
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Adducted thumb
Inward turned thumb
0001181
Autosomal recessive inheritance
0000007
Blotching pigmentation of the skin
0007610
Broad ischia
0100865
Contracture of the proximal interphalangeal joint of the 5th finger
0009185
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Enlarged joints
0003037
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Femoral bowing
Bowed thighbone
0002980
Flared metaphysis
Flared wide portion of long bone
0003015
Flexion contracture of toe
0005830
Frontal bossing
0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Hypoplastic iliac body
0008824
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Metaphyseal rarefaction
0004980
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more

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.

    Treatment

    The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

    Management Guidelines

    • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

      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

        Social Networking Websites

          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 (GHR) contains information on Stuve-Wiedemann 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

            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            • 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 Stuve-Wiedemann syndrome. Click on the link to view a sample search on this topic.

              References

              1. Jorcyl, Cheryl, et al.. Stuve-Wiedemann syndrome. Orphanet. March, 2016; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3206. Accessed 5/4/2016.
              2. Stuve-Wiedemann Syndrome. Online Mendelian Inheritance in Man (OMIM). october, 2015; https://www.omim.org/entry/601559?search=601559. Accessed 5/4/2016.
              3. Stuve-Wiedemann Syndrome. Genetics Home Reference (GHR). April, 2016; https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome. Accessed 5/4/2016.

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