A rare genetic disorder characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.

(medicine) Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Alternative form of Uner Tan syndrome

A rare genetic disorder characterized by excessive physical growth during the first years of life, sometimes accompanied by intellectual and other disabilities.

A rare autosomal-dominant genetic disorder associated with rapid growth beginning in the prenatal period, characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities.

(pathology) A rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in hypokalemia and alkalosis.

An autosomal-recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH.

Synonym of Leigh disease

Alternative form of Meigs syndrome

Synonym of Nijmegen breakage syndrome