Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recess  Read More

A series of exceedingly rare genetic abnormalities known as growth hormone receptor deficiency prevents the body from using the growth hormone it produces. Growth hormone receptor deficiency can result from mutations in the growth hormone receptor (GHR) gene or in genes involved in the cell's action pathway after the growth hormone binds to its receptor. These mutations prevent the production of insulin-like growth factor (IG  Read More

A multisystem condition called Lowe Bickel syndrome, also known as the oculocerebrorenal syndrome of Lowe (OCRL) is characterized by irregularities affecting the kidney, neurological system, and eye. It is a rare, pan-ethnic, X-linked disease with an estimated prevalence of 1 in 500,000 in the general population. At birth, babies have a severe hypotonia condition and a bilateral cataract. A proximal renal tubulopathy (Fanconi-  Read More