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||
|80%-99% of people have these symptoms|
|Abnormal hair whorl||
Abnormal hair whorls
Abnormal whorl of hair[ more ]
|Abnormality of the thorax||
Abnormality of the chest
|Abnormality of the voice||
Clouding of the lens of the eye
Cloudy lens[ more ]
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
Decreased activity of gonads
Loss of fat tissue in localized area
Flattened and twisted hair
|Premature graying of hair||
Premature hair graying[ more ]
Decreased body height
Small stature[ more ]
|Sparse scalp hair||
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair[ more ]
White part of hair above forehead
|30%-79% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
|Aplasia/Hypoplasia of the testes||
Absent/underdeveloped testes[ more ]
Narrowing and hardening of arteries
Calcium deposits in joints
|Congestive heart failure||
Heart failure[ more ]
|Increased bone mineral density||
Increased bone density
Body fails to respond to insulin
|Lack of skin elasticity||0100679|
Decreased breadth of face
Decreased width of face[ more ]
|Pulmonary artery stenosis||
Narrowing of lung artery
|Rocker bottom foot||
Rocker bottom feet
Rockerbottom feet[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Open skin sore
Disproportionately small hands
|Telangiectasia of the skin||0100585|
Type 2 diabetes
Type II diabetes[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the cerebral vasculature||
Abnormality of the cerebral blood vessels
Stiff joints[ more ]
Softening of voice box tissue
|Neoplasm of the oral cavity||
Tumor of mouth
|Neoplasm of the small intestine||
Small intestine tumor
Cancer of connective tissue
Malignant connective tissue tumor[ more ]
Previous menstrual periods stop
|Percent of people who have these symptoms is not available through HPO|
|Abnormal hair morphology||
Abnormality of the hair
Hair abnormality[ more ]
Bone cell cancer
|Progeroid facial appearance||
Premature aged appearance
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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
Differential diagnoses include mandibuloacral dysplasia (MAD), partial lipodystrophy, Rothmund-Thomson syndrome (RTS) and Hutchinson-Gilford progeria syndrome (HGPS; see these terms). Type 2 diabetes mellitus can also share similarities with WS.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
The Helicase and Nucleic Acid-based Machine Conference
Sunday, July 21, 2019 -
Friday, July 26, 2019
Location: The Steamboat Grand, Steamboat Springs, CO
Description: Malfunctions of helicases and nucleic acid-based machines are implicated in a number of rare genetic disorders. Specifically, hereditary mutations in helicase genes are linked to rare diseases including Werner Syndrome, Bloom’s Syndrome, Rothmund-Thomson Syndrome, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, Warsaw Breakage Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Crohn’s Disease, Ophthalmoplegia, and others. This FASEB meeting, which was first held in 2001, examines the roles of these and related helicases in genome metabolism and rare diseases. The meeting is the only one of its kind to focus on the functions, interactions and structures of helicases and helicase-like motors as components of fundamentally important supramolecular machines, and it explores their regulation and key roles in uncommon genetic disorders characterized by defects in DNA repair and genomic stability. The conference brings together a diverse group of academic and industry scientists who focus on the functional roles of helicases and helicase-like motors in pathways of nucleic acid metabolism.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.