Conditions / Genetic
osteoglophonic dysplasia
info · Genetic
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.
Signs and symptoms
- Severe short stature
- Craniosynostosis
- Malar flattening
- Midface retrusion
- Growth delay
- Hypoplasia of the maxilla
- Prominent supraorbital ridges
- Telecanthus
- Short foot
- Hypoplastic scapulae
Also known as: Fairbank-Keats syndrome; OGD; osteoglophonic dwarfism