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Disease Profile
Sheldon-Hall 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
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ICD-10
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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)
DA2B; Arthrogryposis multiplex congenita distal type 2B; Freeman Sheldon syndrome, variant;
Categories
Congenital and Genetic Diseases
Summary
Sheldon-Hall
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 | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
Aplasia/Hypoplasia of the radius | 0006501 | |
Bilateral single transverse palmar creases | 0007598 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
0002650 | ||
Webbed neck |
Neck webbing
|
0000465 |
30%-79% of people have these symptoms | ||
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Overlapping fingers | 0010557 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Round ear | 0100830 | |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Ulnar deviation of the wrist | 0003049 | |
Vertebral segmentation defect | 0003422 | |
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 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the ear | 0000598 | |
Absent phalangeal crease | 0006109 | |
Arthrogryposis multiplex congenita | 0002804 | |
0000006 | ||
Calcaneovalgus deformity | 0001848 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Distal arthrogryposis | 0005684 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Long philtrum | 0000343 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Narrow mouth |
Small mouth
|
0000160 |
Prominent nasolabial fold |
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ] |
0005272 |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Ulnar deviation of the hand or of fingers of the hand | 0001193 |
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.
Related diseases
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.
Conditions with similar signs and symptoms from Orphanet
|
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Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome; see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
Toll-free: 1-805-55-AMCSI (1-805-552-6274)
Telephone: +1-805-552-6274
E-mail: [email protected]
Website: https://amcsupport.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.
Where to Start
- Genetics Home Reference (GHR) contains information on Sheldon-Hall 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 Sheldon-Hall syndrome. Click on the link to view a sample search on this topic.
References
- Sheldon-Hall syndrome. Genetics Home Reference (GHR). June 2015; https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome.
- Bamshad M, Toydemir R. Sheldon-Hall syndrome. Orphanet. March 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1147.