See GeneReviews for a detailed list of the symptoms of SIOD.
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 T cell morphology||0002843|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
Low number of red blood cells or hemoglobin
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
|Disproportionate short-trunk short stature||
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism[ more ]
Dislocation of hip[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
Decreased width of tooth
|Ovoid vertebral bodies||0003300|
High urine protein levels
Protein in urine[ more ]
Decreased length of neck
Low platelet count
|30%-79% of people have these symptoms|
|Multiple cafe-au-lait spots||0007565|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal immunoglobulin level||0010701|
Abnormal curving of the cornea or lens of the eye
Coarse hair texture
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture[ more ]
|Focal segmental glomerulosclerosis||0000097|
|High pitched voice||0001620|
|Hypoplasia of the capital femoral epiphysis||
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part[ more ]
|Lateral displacement of the femoral head||0006453|
Excessive inward curvature of lower spine
Nearsightedness[ more ]
Low blood neutrophil count
Low neutrophil count[ more ]
|Opacification of the corneal stroma||0007759|
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Renal failure in adulthood[ more ]
|Shallow acetabular fossae||0003182|
|Transient ischemic attack||
Waddling walk[ 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
Cartilage-hair hypoplasia (see this term) is the main differential diagnosis.
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.
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.