The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal vertebral ossification||90%|
|Abnormality of bone mineral density||90%|
|Abnormality of the fibula||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the ribs||90%|
|Abnormality of the tibia||90%|
|Bowing of the long bones||90%|
|Abnormality of the femur||50%|
|Low-set, posteriorly rotated ears||50%|
|Sacrococcygeal pilonidal abnormality||50%|
|Abnormality of the sense of smell||7.5%|
|Abnormality of the upper urinary tract||7.5%|
|Depressed nasal bridge||7.5%|
|11 pairs of ribs||-|
|Abnormality of cardiovascular system morphology||-|
|Absent sternal ossification||-|
|Anterior tibial bowing||-|
|Autosomal dominant inheritance||-|
|Depressed nasal ridge||-|
|Disproportionate short-limb short stature||-|
|Failure to thrive||-|
|Hypoplastic cervical vertebrae||-|
|Hypoplastic iliac wing||-|
|Neonatal short-limb short stature||-|
|Poorly ossified cervical vertebrae||-|
|Short palpebral fissure||-|
|Shortening of all phalanges of fingers||-|
|Shortening of all phalanges of the toes||-|
|Wide anterior fontanel||-|
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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I carry a mutation in the SOX9 gene but I do not have any signs or symptoms of campomelic dysplasia. I have had several pregnancies; one resulted in a child with the condition who later passed away, two resulted in pregnancy termination because the fetuses were found to have the condition, and 2 resulted in miscarriages. I was told that the risk for each of my pregnancies to be affected with this condition was 50%. If this is the case, why does it seem like all of my pregnancies have been affected? See answer