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|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Long, narrow head
Tall and narrow skull[ more ]
|Facial telangiectasia in butterfly midface distribution||0005598|
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Decreased breadth of face
Decreased width of face[ more ]
|Postnatal growth retardation||
Growth delay as children
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Decreased body height
Small stature[ more ]
Spotty increased pigmentation
|30%-79% of people have these symptoms|
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
|High pitched voice||0001620|
|Hypoplasia of the zygomatic bone||
Decreased size of cheekbone
Underdevelopment of cheekbone[ more ]
Decreased length of nose
Shortened nose[ more ]
|5%-29% of people have these symptoms|
Absent sperm in semen
|Decreased fertility in females||
Reduced fertility in females
Sweating, increased[ more ]
|Hypopigmented skin patches||
Patchy loss of skin color
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Cancer of lymphatic system
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Gastrointestinal tract tumor
GI tract tumor[ more ]
Prominent ears[ more ]
|Reduced number of teeth||
Decreased tooth count
|Percent of people who have these symptoms is not available through HPO|
|Agenesis of maxillary lateral incisor||0000690|
Permanent enlargement of the airways of the lungs
|Chronic lung disease||0006528|
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Undescended testis[ more ]
Disproportionately large nose
Increased nasal size
Increased size of nose
Pronounced nose[ more ]
|Specific learning disability||0001328|
Spotty decreased pigmentation[ more ]
Webbed fingers or toes
Type 2 diabetes
Type II diabetes[ more ]
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 diagnosis includes Silver-Russell syndrome, Rothmund-Thomson syndrome, ataxia-telangiectasia, Cockayne syndrome, and Nijmegen breakage syndrome (see these terms).
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.
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.
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. Submit a new question
I have Bloom syndrome and am wondering if I'm able to become pregnant. See answer
Can Bloom syndrome be detected before symptoms appear? See answer
My nephew and niece, ages 4 and 1, have been diagnosed with Bloom syndrome very recently. We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment or gene therapy which can be offered now or in the near future. Any help or leads would be highly appreciated. See answer