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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 86789
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Facial midline hemangioma|
|Increased urinary cortisol level|
|Reduced MHC II surface expression|
|Delayed femoral head ossification|
|Impaired reabsorption of chloride|
|Antinuclear antibody positivity|
|Abnormality of the skin|
|Autosomal dominant inheritance|
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