Disease Directory

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 severe skin disorder evident at birth that presents with widespread red, peeling skin, while nail and hair-shaft s...

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...

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

Congenital malabsorptive diarrhea 4 is an exceedingly rare gastrointestinal condition characterized by severe malabsorptive diarrhea due to a paucity...

Congenital megacalycosis is a rare renal malformation in which the kidney’s calyces are abnormally dilated without any obstruction, and an increased n...

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization is characterized by severe renal failure and nephrotic s...

Congenital merosin-deficient muscular dystrophy 1A is a neuromuscular disorder that typically presents at birth or in infancy. Affected individuals ge...

Congenital mesoblastic nephroma is a low grade malignant kidney tumor that primarily affects infants, with most cases presenting within the first year...

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome is a multisystem condition that predominantly affects neurolog...

Congenital microcoria is a rare ophthalmological condition that primarily affects the development of the eye, resulting in abnormally small pupils at...

Congenital microgastria is a rare malformation in which the embryological development of the stomach is disrupted, resulting in an abnormally small st...

Congenital mitral malformation is a heart defect present at birth that arises from an abnormal development of the mitral valve, a structure critical f...

Congenital mitral stenosis is a heart malformation present from birth that affects the structure and function of the mitral valve, leading to a blocka...