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)|
|Abnormality of thumb phalanx||90%|
|Depressed nasal bridge||90%|
|Abnormality of the wrist||50%|
|Abnormality of epiphysis morphology||7.5%|
|Abnormality of the cardiovascular system||7.5%|
|Conductive hearing impairment||7.5%|
|Vertebral segmentation defect||7.5%|
|Accessory carpal bones||-|
|Atria septal defect||-|
|Autosomal dominant inheritance||-|
|Beaking of vertebral bodies||-|
|Cleft upper lip||-|
|Hypoplastic cervical vertebrae||-|
|Intrauterine growth retardation||-|
|Multiple carpal ossification centers||-|
|Spina bifida occulta||-|
|Spinal cord compression||-|
|Ventricular septal defect||-|
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.
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. Suggest an organization to add.
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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My son and his wife both have a copy of the gene and their daughter was born with skeletal deformities/issues. She was diagnosed via genetic testing with Larsen's. Is there a way to fix the altered gene prior to conception so that they can have additional children free of the disease in the future? See answer
My 25-year-old son has Larsen syndrome. He currently weighs 6kg and his height is 70cm. Is his low height and weight due to Larsen syndrome? See answer