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Disease Profile
Stuve-Wiedemann 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
Q78.8
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)
STWS; Schwartz-Jampel syndrome type 2; SJS2;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Stuve-Wiedemann
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 | |
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 |
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 | ||
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 | |
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 |
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 | |
0000007 | |||
Blotching pigmentation of the skin | 0007610 | ||
Broad ischia | 0100865 | ||
Contracture of the proximal interphalangeal joint of the 5th finger | 0009185 | ||
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 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more
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. 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. Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. 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. 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. Rare Medical News |