DeLange syndrome, formerly Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, small growth, limb defects that range from subtle phalangeal abnormalities to oligodactyly. IQ average is 53 and many individuals have behavior problems. Two genes are associated with CdLS NIPBL and SMC1L1 although it usually occurs by chance.
Epidermolysis bullosa simplex (EBS) is a disease involving fragile skin that can blister after little or no injury. You can see some nasty photos at the website above. Four subtypes of EBS range from relatively mild blistering of the hands and feet to more generalized blistering which can even be fatal. Supportive care is needed to protect the skin, promote healing, and prevention and treatment of secondary infection. EBS is usually inherited in an autosomal dominant manner, but in rare families, especially those with consanguinity, it can be inherited in an autosomal recessive manner.