Disease Directory

Congenital hydrocephalus is a condition present at birth that involves an abnormal accumulation of cerebrospinal fluid within the brain’s ventricles....

Congenital hypogonadotropic hypogonadism is a rare disorder affecting sexual maturation due to insufficient production of gonadotropins, leading to lo...

Congenital hypoplasia of the mitral valve annulus is a rare heart malformation present at birth, characterized by an underdeveloped mitral valve ring...

Congenital hypothalamic hamartoma syndrome is a condition characterized by tumor-like malformations in the hypothalamus that are present at birth. The...

Congenital hypothyroidism is a condition characterized by insufficient thyroid hormone production present from birth. While it is primarily recognized...

Congenital hypothyroidism due to maternal intake of antithyroid drugs is a condition in which newborn thyroid function is affected by exposure to anti...

Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies is a form of transient thyroid hormone deficienc...

Congenital hypotrichosis with juvenile macular dystrophy is a very rare condition that primarily affects both the hair and the eyes. It is characteriz...

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is a multisystem condition that primarily affects both the skin and the ce...

Congenital ichthyosis-microcephalus-tetraplegia syndrome is a very rare condition that appears to affect multiple body systems, including the skin, he...

Congenital infiltrating lipomatosis of the face is a condition characterized by abnormal overgrowth of fatty tissue that infiltrates the facial struct...

Congenital insensitivity to pain syndrome, Marsili type is a condition affecting the sensory system in which individuals have a markedly reduced abili...

Information about the overview of congenital insensitivity to pain with hyperhidrosis is currently limited for this condition. This condition is ident...

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

Congenital insensitivity to pain-hypohidrosis syndrome is a hereditary sensory neuropathy that primarily affects the nerves responsible for sensing pa...

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...