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Central core disease (CCD) is a relatively rare genetic disorder usually detected in infancy or early childhood. Central core disease tends to affect males and females in equal numbers. It is an autosomal dominant trait. Although less common, CCD has occurred spontaneously without a family history. This disease is characterized by abnormalities of skeletal muscles.…

Central auditory processing disorder (CAPD) is the term used to describe audiological difficulties that are characterized by reduced abilities to process auditory information in individuals with normal peripheral hearing. CAPD includes difficulties in locating the source and direction of sounds, discriminating between sounds, recognizing patterns of sounds, ordering sounds that are presented in close temporal…

Cat-scratch disease is a bacillary infection that primarily affects children and adolescents. It is caused by the bacterium Bartonella henselae and is transmitted via feline saliva. Felines contract the disease through fleas, and humans are infected when bitten or scratched by an infected cat, typically a very young cat. The disease is typically benign and…

Cat eye syndrome (CES) is a malformation involving an extra marker chromosome derived from Chromosome 22. CES shows characteristic features such as ocular coloboma of the iris, giving the appearance of a vertical pupil, hence the name. However, over half of the reported cases do not manifest this feature. This chromosomal abnormality usually arises spontaneously,…

Castleman disease (CD), also referred to as angiofollicular lymph node hyperplasia, is a heterogeneous group of lymphoproliferative disorders, characterized by abnormal growth of the lymph nodes. There are three histopathological variants of CD: hyaline-vascular type, which accounts for approximately 80-90% of reported cases; plasma cell type; and an intermediate, or mixed, histological type. Clinical presentation…

Carpenter syndrome (acrocephalopolysyndactyly, Type II) is a congenital condition that was first described in 1901 by George Carpenter, a British pediatrician. Although Carpenter syndrome presents with marked phenotypical variability, defining characteristics of this disorder include acrocephaly (peaked head), craniosynostosis (premature closure of the cranial sutures), craniofacial asymmetry, soft tissue syndactyly (webbing of the fingers and…

Carnitine palmitoyltransferase deficiency (CPT) is a very rare autosomal recessive genetic disease created from the interaction of one gene from the mother and one gene from the father. Thus, the condition does not appear in the child unless the same defective gene for the same trait from each parent is inherited. If only one normal…

Carnitine palmitoyltransferase deficiency (CPT) is an extremely rare genetic disorder of mitochondrial fatty-acid oxidation. Two forms of this genetic defect have been described: CPT-I and CPT-II. CPT-I is a more severe form (hepatocardiomuscular syndrome) associated with onset in infancy. CPT-II is a milder form of muscle disease associated with an adult presentation.  

Cardiofaciocutaneous (CFC) syndrome, also known as cardio-facial-cutaneous syndrome and facio-cardio- cutaneous syndrome, affects both males and females. It is a rare genetic disorder found in children that is diagnosed based on specific physical appearances of the head, face, chest, hands, skin, and/or heart, in addition to visual impairment, growth delays, and/or varying degrees of mental…