Campomelic syndrome, long-limb type, is a rare disorder that affects the bones, muscles and cartilage. Symptoms of this condition include abnormal facial features, abnormal hand structure and abnormal joint development. It can also lead to limb deformities, such as clubfoot or curved fingers. In some cases, the affected person may have only one hand with a shortened ulna (forearm bone). There are no known causes f  Read More

Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a n  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