MBTPS1-related disorders are a group of very rare genetic disorders related with protein transporting defects within cells. As a result, abnormally accumulated macromolecules cause cellular stresses and skeletal defects where accumulation occurs. These disorders are often poorly clinically recognized and its mechanism of action are poorly understood because of its rareness, and thus fewer treatment options are also available.
As MBTPS1-related disorders, spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is an inherited genetic skeletal disorder together with congenital cataracts. The first SEDKF pediatric patient was born with no obvious abnormalities. Soon after birth, however, the gain in weight and height slowed down considerably. In addition to the growth retardation, she had suffered from developmental delay and severe skeletal manifestations with pains including pectus carinatum, kyphosis, and waddling gait. As to cataract, her vision has been fine after extraction. Speech and cognitive development were normal. There clinical manifestations were shared with other SEDKF patients.
We aim to identify more patients so that in the near future improved diagnosis, treatment and even disease prevention become a reality. We would like to enable connections between patients and their families with physicians and scientists for being on the same page to tackle our common goal.
To find out our latest research, please check out our news at: