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 the fibula||90%|
|Abnormality of the tibia||90%|
|Aplasia/Hypoplasia of the radius||90%|
|Abnormality of female internal genitalia||50%|
|Abnormality of the clavicle||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the palate||50%|
|Abnormality of the ribs||50%|
|Abnormality of the sense of smell||50%|
|Aplasia/Hypoplasia of the lungs||50%|
|Intrauterine growth retardation||50%|
|Low-set, posteriorly rotated ears||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Abnormal lung lobation||7.5%|
|Aplasia/Hypoplasia of the tongue||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Abnormal sacral segmentation||-|
|Abnormality of the cardiovascular system||-|
|Abnormality of the ureter||-|
|Autosomal recessive inheritance||-|
|Elbow flexion contracture||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
|Polycystic kidney dysplasia||-|
|Posteriorly rotated ears||-|
|Rudimentary to absent tibiae||-|
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.
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.