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 hair quantity||90%|
|Abnormal vertebral ossification||90%|
|Abnormality of bone mineral density||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of retinal pigmentation||90%|
|Abnormality of the cardiac septa||90%|
|Abnormality of the distal phalanx of finger||90%|
|Abnormality of the pancreas||90%|
|Abnormality of the tibia||90%|
|Bowing of the long bones||90%|
|Convex nasal ridge||90%|
|Abnormality of the hip bone||50%|
|Abnormality of the palate||50%|
|Depressed nasal bridge||50%|
|Low-set, posteriorly rotated ears||50%|
|Wide nasal bridge||50%|
|Abnormality of chromosome stability||7.5%|
|Accelerated skeletal maturation||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Aplasia/Hypoplasia of the abdominal wall musculature||7.5%|
|Decreased antibody level in blood||7.5%|
|Delayed skeletal maturation||7.5%|
|Depressed nasal ridge||7.5%|
|Abnormality of pelvic girdle bone morphology||-|
|Autosomal recessive inheritance||-|
|Congenital hypoplastic anemia||-|
|Flaring of lower rib cage||-|
|Impaired lymphocyte transformation with phytohemagglutinin||-|
|Limited elbow extension||-|
|Narrow vertebral interpedicular distance||-|
|Neonatal short-limb short stature||-|
|Neoplasm of the skin||-|
|Sparse and thin eyebrow||-|
|Sparse facial hair||-|
|Susceptibility to chickenpox||-|
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.
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