Boomerang dysplasia

An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.

Signs and symptoms

• Severe short stature
• Wide nasal bridge
• Hypoplastic nasal septum
• Underdeveloped nasal alae
• Fibular aplasia
• Absent radius
• Hypoplastic iliac body