Congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is prese... More

Club foot or clubfoot, also called Congenital Talipes Equinovarus (CTEV), is a congenital deformity involving one foot or both. More

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV, is an extremely rare inherited diso... More

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. More

Biliary atresia, also known as extrahepatic ductopenia, progressive obliterative cholangiopathy or "Kotb disease", is a childhood disease of the liver in whi... More

Congenital myopathy is a very broad term for any muscle disorder present at birth. More

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical ... More

Paramyotonia congenita (PC), also known as paramyotonia congenita of von Eulenburg or Eulenburg disease, is a rare congenital autosomal dominant neuromuscula... More

Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. More

Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest during sleep. More