Congenital insensitivity to pain with severe intellectual disability is a condition characterized by an inability to perceive painful stimuli accompan...

Congenital isolated adrenocorticotropic hormone deficiency is a condition affecting the pituitary gland, characterized by reduced or absent production...

Congenital isolated hyperinsulinism is a rare endocrine condition that primarily affects newborns and young infants by causing severe and persistent e...

Congenital knee dislocation is a musculoskeletal condition present at birth, characterized by an abnormal alignment of the knee joint. Because the con...

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome is a complex condition characterized by abnorma...

Congenital lactase deficiency is a severe gastrointestinal disorder that presents in newborns, most reported in Finland. It arises from pathogenic var...

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (sometimes called French-Canadian Leigh syndrome) is a mitochondrial disorder that mainly aff...

Congenital laryngeal cyst is a rare anomaly of the larynx characterized by the development of a cyst in areas such as the supraglottis, epiglottis, or...

Congenital laryngeal palsy, also known as congenital vocal cord paralysis, is a rare condition affecting the larynx in which the vocal cords may be pa...

Congenital laryngeal web is a rare malformation characterized by a membrane-like structure extending across the laryngeal lumen near the vocal cords....

Congenital laryngomalacia is a condition characterized by an increased collapsibility of the larynx, which leads to noisy breathing and stridor, parti...

Congenital left-sided heart lesions represent a group of serious structural heart defects present from birth that affect the left side of the heart. T...

Congenital lethal erythroderma is a rare and severe skin disorder that presents at birth with widespread red, peeling skin and associated systemic com...

Congenital lipoid adrenal hyperplasia due to STAR deficency is one of the most severe forms of congenital adrenal hyperplasia, primarily affecting the...

Congenital lobar emphysema is a respiratory abnormality that results in hyperinflation of one or more lung lobes, leading to respiratory distress prim...

Congenitally corrected transposition of the great arteries is a rare cardiac malformation in which the normal connections between the heart’s chambers...

Congenital shortness of the costocoracoid ligament is a very rare anomaly that results in the scapula being fixed to the first rib. This fixation lead...

Congenitally uncorrected transposition of the great arteries with cardiac malformation is a structural heart defect that results in abnormal positioni...

Congenitally uncorrected transposition of the great arteries with coarctation is a complex congenital heart defect that involves an abnormal arrangeme...

Congenital macroglossia is a condition characterized by an unusually large tongue present from birth. Although the specific genetic factors remain und...