Camptomelic dwarfism is a genetic condition that affects the development of one of your arms and legs. It can cause short stature, limb malformations, and/or joint problems. The condition is caused by a mutation in the SHOX gene, which is responsible for making proteins that help build bones and muscles. When this gene is mutated, it causes bones to develop abnormally. People with camptomelic dwarfism  Read More

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). The disorder is present at birth (congenital), but mild cases may go undia  Read More

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of t  Read More

Spondyloepimetaphyseal dysplasias (SEMD) are a heterogeneous group of chondrodysplasias, characterized by different patterns of inheritance. Different subtypes of SEMD are reported in genetic medical databases and literature. The Smith-McCort variant syndrome (SMS) or smith-mccort dysplasia is one of the subtypes of SEMD (subtype II). 1. SMS is a rare autosomal recessive osteochondrodysplasia characterized by shor  Read More

Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include: • arthrogryposis multiplex congenita (multiple joint contractures before birth that involve at least two different body areas; sometimes caused by decreased fetal movement) • joint and soft-tissue abnormalities o  Read More