The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then. The syndrome is detected by abnormalities noted at birth involving the head, limbs, heart, ears, and skin. It is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis. As documented in the first case, the victim tends to suffer from cyanosis and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age. Craniofacial problems are present that have no effect on the patient's intelligence and mental growth. Most problems resulting from the syndrome are physical. It causes acrocephaly, making the head appear pointed, and webbing or syndactyly of certain toes or fingers.
Sakati–Nyhan–Tisdale syndrome
Fox–Fordyce disease
Hermansky–Pudlak syndrome
Lujan–Fryns syndrome
Keppen–Lubinsky syndrome
DeSanctis–Cacchione syndrome
Cronkhite–Canada syndrome
Weill–Marchesani syndrome