Carey-Fineman-Ziter syndrome 1 is a rare condition that affects muscle tone and facial development. People with this condition have low muscle tone (h...

Carey-Fineman-Ziter syndrome 2 is a rare condition caused by a mutation in the MYMX gene. This condition is part of the broader group of Carey-Fineman...

Carney complex (CNC) is a rare condition characterized by spotty skin pigmentation, endocrine overactivity, and myxomas. People with this condition ma...

Carney complex - trismus - pseudocamptodactyly syndrome is a rare genetic condition that affects both the heart and the hands. It is part of the Carne...

Carney complex, type 1 is a rare condition that is defined by the presence of a mutation in the PRKAR1A gene. This mutation leads to the development o...

Carney complex type 2 is a rare condition that falls under the group of Carney complex disorders. Although a detailed definition is not available, thi...

Carney-Stratakis syndrome is a rare familial condition that has been described relatively recently. It is characterized by the occurrence of both gast...

Carney triad is a rare non-hereditary condition characterized by the coexistence of gastrointestinal stromal tumors, pulmonary chondromas, and extraad...

Carnitine-acylcarnitine translocase deficiency is a life-threatening disorder of fatty acid oxidation that primarily affects the neonatal period. It i...

Carnitine palmitoyl transferase 1A deficiency is an inborn error of metabolism that primarily affects the liver and kidneys by impairing mitochondrial...

Carnitine palmitoyl transferase deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Carnitine palmitoyltransferase II deficiency is an inherited metabolic disorder that affects the body’s ability to oxidize long chain fatty acids with...

Carnitine palmitoyl transferase II deficiency, myopathic form is a metabolic muscle disorder that interferes with the breakdown of long-chain fatty ac...

Carnitine palmitoyl transferase II (CPT II) deficiency, neonatal form, is a very rare inherited metabolic disorder that disrupts the body’s ability to...

Carnitine palmitoyl transferase II deficiency, severe infantile form, is a metabolic condition that disrupts the body’s ability to break down long-cha...

Carnosinemia, also known as carnosinase deficiency or homocarnosinosis, is a very rare inherited disorder characterized by a deficiency of serum carno...

Caroli disease is a rare congenital liver condition. It is characterized by non-obstructive cystic dilatations of the bile ducts inside the liver and,...

Caroli syndrome is a rare genetic liver condition. It is marked by multiple cystic dilatations in both the major and smaller bile ducts along with con...

Carotid body paraganglioma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is cha...

Carpal tunnel syndrome 1 is an inherited condition that affects the nerves of the hand, typically impacting the wrist region where the median nerve is...