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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2645
A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
Less than ten cases have been reported so far.
Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.
Osteoglosphonic dysplasia (OGD) is caused by mutations in the FGFR1 gene (8p11.2-p11.1).
OGD is transmitted in an autosomal dominant manner.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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