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 pelvic girdle bone morphology||90%|
|Abnormality of the fingernails||90%|
|Limitation of joint mobility||90%|
|Absence of pectoralis minor muscle||-|
|Absent distal interphalangeal creases||-|
|Autosomal dominant inheritance||-|
|Cleft upper lip||-|
|Clinodactyly of the 5th finger||-|
|Disproportionate prominence of the femoral medial condyle||-|
|Glenoid fossa hypoplasia||-|
|Hypoplasia of first ribs||-|
|Hypoplastic radial head||-|
|Limited elbow extension||-|
|Sensorineural hearing impairment||-|
|Thickening of the lateral border of the scapula||-|
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.
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.
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 two children affected by nail-patella syndrome. Would physiotherapy help stabilize their joints? See answer
I have had one previous full term pregnancy without complications but recently miscarried at 10 weeks. Would my diagnosis of nail-patella syndrome increase my risk for a miscarriage? See answer
I have nail-patella syndrome. Can you tell me if the risk for pre-eclampsia in pregnancy is increased significantly for a woman over the age of 35? This will be my second pregnancy and I did not have any issues with my first child except for a minimal amount of proteinuria at 20 weeks. See answer