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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2741
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Three cases in one family have been described so far (two males, one female).
Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal.
The causative gene has not yet been identified.
Autosomal dominant inheritance has been suggested.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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