Scott craniodigital syndrome is a condition that has only been found in two families. The manifestations include unusual head shape, growth and developmental delay, and mild webbing between the fingers and toes (syndactyly)  Read More

Mucolipidosis IV (MLIV) is a rare genetic disorder that affects many different parts of the body, including the lungs, eyes, and brain. The most common symptom of MLIV is failure to thrive—a condition in which a child grows very slowly. Other symptoms include severe hearing loss, frequent respiratory infections, vision problems, and seizures. MLIV is caused by mutations in the CLN3 gene, which causes a defic  Read More