The symptoms of CFND vary greatly in number and severity among affected individuals. The most common symptoms of this disorder include widely spaced eyes (ocular hypertelorism), a vertical groove (cleft) on the tip of the nose, shoulder and limb abnormalities and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). The head typically has an unusual shape due to premature closure of the fibrous joints (sutu  Read More

Symptom presentation varies from person to person. Most people with SHFM have fewer than five fingers or toes on a hand or foot (oligodactyly). A smaller proportion of individuals affected by SFHM have finger fusing (syndactyly) of multiple fingers on the hands. This is often referred to as the “lobster claw” variety where the third digit is absent and replaced with a cone-shaped cleft that tapers in toward the wrist and divides th  Read More