Closed iniencephaly is a congenital condition affecting the development of the neural tube and the structure of the head and neck. Due to the limited...

Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic condition. It is mainly characterized by a triad of symptoms includi...

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome is an extremely rare condition that primarily affects the development of the skull and chest...

Cloverleaf skull-multiple congenital anomalies syndrome is a recently described condition marked by a distinctive cloverleaf skull together with limb...

CLOVES syndrome is a complex condition characterized by congenital lipomatous overgrowth, mixed vascular malformations, epidermal nevi, and skeletal a...

Clubfoot is the most common congenital foot deformation, occurring in approximately 1 in 1,000 live births. The most common presentation, talipes equi...

Familial cluster headache is an inherited form of cluster headache syndrome, a condition characterized by recurring episodes of severe head pain that...

Cluster headache syndrome is a primary headache disorder characterized by severe, one-sided pain around the orbital, supraorbital, and temporal region...

CNGA1-related retinopathy is an inherited disorder affecting the retina, the light-sensitive tissue at the back of the eye. It is caused by bi-allelic...

CNGA3-related retinopathy is a condition affecting the retina and is typically described as achromatopsia. It is caused by biallelic variants in the C...

CNGB1-related retinopathy is an inherited eye condition that affects the retina and can lead to progressive vision difficulties. The condition is caus...

CNGB3-related retinopathy is a rare eye condition that affects the retina, the light-sensitive tissue at the back of the eye. It occurs due to changes...

cns neuroblastoma with FOXR2 activation is a type of tumor affecting the central nervous system. It is characterized by a distinct pathology, with sma...

COACH syndrome is a Mendelian disease that affects development from infancy. It is mainly characterized by features such as infantile ataxia (problems...

COACH syndrome 1 is a rare genetic condition caused by a variation in the TMEM67 gene. It is known by other names such as cerebellar vermis hypo/aplas...

COACH syndrome 2 is a rare genetic condition that is part of the group of disorders known as COACH syndromes. It is characterized by the presence of c...

COACH syndrome 3 is a rare genetic condition. Although detailed information is currently limited, the condition is recognized in medical databases and...

Coagulation protein disease refers to a deficiency of one or more coagulation factors, leading to increased bleeding risk. Known genes associated with...

Coats disease is a rare eye condition that affects the retina. It is marked by abnormal blood vessels in the retina (retinal telangiectasia) that leak...

Coats plus syndrome is a multisystem disorder that affects several parts of the body. People with this condition may have problems with the eyes, brai...