Asphyxiating Thoracic Dysplasia
Asphyxiating thoracic dysplasia (often called Jeune syndrome) is a rare genetic bone growth problem. It mainly affects the chest, ribs, spine, and the long bones of...
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Asphyxiating thoracic dysplasia (often called Jeune syndrome) is a rare genetic bone growth problem. It mainly affects the chest, ribs, spine, and the long bones of...
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome is an extremely rare genetic bone disorder that affects a baby before birth. In this syndrome, the bones of the skull...
Omphalocele–cloacal exstrophy–imperforate anus–spinal defect syndrome is usually called OEIS complex. It is a very rare birth condition where a baby is born with four main problems...
Exstrophy of cloaca sequence is a very rare birth defect. It happens very early in pregnancy, when the baby is still an embryo. In this condition,...
Cloacal exstrophy is a very rare birth defect. It happens when a baby’s lower tummy (abdomen), bladder, intestines, bottom (anus), and sometimes the spine and sex...
Cleft palate–stapes fixation–oligodontia syndrome is a very rare birth (congenital) condition. In this syndrome, a baby is born with three main problems together: a cleft in...
Disease of the cleft of the alveolar process of the maxilla usually means all the problems related to a bony gap in the tooth-bearing part of...
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic disease. In this disease, the body cannot properly break down galactose, a...
Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridyltransferase (GALT). This enzyme normally...
Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme sits in the...
Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme normally helps change...
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are...