Asphyxiating thoracic dystrophy is a very rare form of congenital dwarfism affecting the development of the bone structure, particularly of the chest (thorax) but also of the legs and arms. Typical, major characteristics include failure of the rib...

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the...