Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

Torticollis is a medical condition that causes your neck muscles to become tight and shortened. It can be caused by several different things, including whiplash, trauma to the head or neck, cerebral palsy, or other conditions. Torticollis can cause pain in your neck, shoulder, and upper back. The pain can be severe enough that it interferes with your ability to sleep or work. The muscle spasms in torticollis may c  Read More

Treacher Collins syndrome (TCS) or treacher collins-franceschetti syndrome 1 is a rare genetic disorder characterized by distinctive abnormalities of the head and face. Craniofacial abnormalities tend to involve underdevelopment of the zygomatic complex, cheekbones, jaws, palate and mouth which can lead to breathing and feeding difficulties. In addition, affected individuals may also have malformations of the eyes,  Read More