Glossary for Dysostosis

• Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
• Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Scoliosis: Sideways curvature of the spine
• Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
• Spranger syndrome: A rare genetic disorder characterized by dwarfism and an unusually pleasant, happy face as well as other abnormalities involving the hands and feet. The condition involves localized accumulations of mucopolysaccharides in the liver, trachea and cardiovascular system cartilage.
• Stiff joints: Reduced mobility or movement of the joints

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