Eiken syndrome

A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1

A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.

Signs and symptoms

• Decreased body weight
• Broad femoral neck
• Thickened calvaria
• Short stature
• Elevated circulating alkaline phosphatase concentration
• Multiple impacted teeth
• Motor delay
• Flattened epiphysis
• Prominent forehead
• Hypertelorism

Also known as: Eiken skeletal dysplasia; bone modeling defect of hands and feet