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 fibula||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the tibia||90%|
|Abnormality of the ulna||90%|
|Aplasia/hypoplasia of the femur||90%|
|Bowing of the long bones||90%|
|Aplasia/Hypoplasia involving the carpal bones||75%|
|Aplasia/Hypoplasia involving the metacarpal bones||75%|
|Aplasia/Hypoplasia of metatarsal bones||75%|
|Aplasia/Hypoplasia of the phalanges of the hand||75%|
|Aplasia/Hypoplasia of the phalanges of the toes||75%|
|Aplasia/Hypoplasia of the tarsal bones||75%|
|Disproportionate short stature||75%|
|Elbow flexion contracture||75%|
|Hypoplasia of the radius||75%|
|Abnormality of female internal genitalia||50%|
|Aplasia/Hypoplasia of the pubic bone||50%|
|Aplasia/Hypoplasia of the radius||50%|
|Intrauterine growth retardation||50%|
|Abnormality of the humerus||7.5%|
|Abnormality of the pinna||7.5%|
|Calvarial skull defect||7.5%|
|Hypoplasia of penis||7.5%|
|Aplasia of the uterus||5%|
|Anteriorly displaced genitalia||4/5|
|Aplastic pubic bones||-|
|Autosomal recessive inheritance||-|
|Carpal bone aplasia||-|
|Congenital pseudoarthrosis of the clavicle||-|
|Decreased calvarial ossification||-|
|Wide nasal bridge||-|
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.
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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