Disease Directory

Craniosynostosis, Philadelphia type is a syndromic form of craniosynostosis that primarily affects the skull and the hands and feet. It is characteriz...

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is a complex malformation disorder that affects the skull and brain structures. It i...

Craniosynostosis-anal anomalies-porokeratosis syndrome is a very rare congenital condition that affects multiple systems including the skull, genital...

Craniosynostosis-cataract syndrome is a condition that primarily affects the development of the skull and eyes. Although detailed descriptions are not...

Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome is a complex condition that affects the cranial st...

Craniosynostosis-fibular aplasia syndrome is an extremely rare condition characterized by premature fusion of the cranial sutures along with the conge...

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome is a very rare condition that affects the development...

Craniosynostosis-intracranial calcifications syndrome, also known as Longman-Tolmie syndrome and craniosynostosis, calcification of basal ganglia, and...

Craniotelencephalic dysplasia is an extremely rare developmental disorder that affects the structure of the skull and brain. It is characterized by pr...

Craniotubular dysplasia, Ikegawa type is a skeletal condition that primarily affects bone development and craniofacial structure. It is caused by chan...

X-linked creatine transporter deficiency is a genetic disorder that limits the transport of creatine, a molecule crucial for brain energy. This condit...

Creeping myiasis, also known as migratory myiasis, is a condition that has been described in clinical contexts although detailed definitions are not a...

Crescentic glomerulonephritis is a kidney condition identified by extensive crescent formation in the glomeruli. It is marked by a rapid deterioration...

Cribriform variant testicular seminoma is a distinct morphologic type of testicular seminoma, defined by a pattern where seminoma cells are arranged i...

Criss-cross heart is a congenital cardiac malformation in which the inflow streams of the two ventricles cross as a result of the heart twisting about...

Critical illness polyneuropathy is a disorder affecting the peripheral nerves that is typically encountered in patients recovering from severe or crit...

Crossed polydactyly, type I is a congenital condition characterized by an abnormal formation of the digits, where extra or misaligned fingers or toes...

Crossed polysyndactyly is a congenital limb malformation disorder characterized by extra digits on the hands and feet along with abnormal fusion of pa...

Cryohydrocytosis is a rare, hereditary hemolytic anemia caused by a red blood cell membrane anomaly. It is associated with a leakage of potassium from...

Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory condition characterized by recurrent systemic inflammatory episodes in the absenc...