Cadherin EGF LAG seven-pass G-type receptor 1–related late-onset primary lymphedema is a rare inherited (genetic) kind of long-term swelling that happens because the body’s lymph drainage system is ...
Celiac disease–epilepsy–cerebral calcification syndrome is a rare condition where three things happen together: celiac disease (a gluten-triggered immune disease of the small intestine), epilepsy ...
Cerebral dysgenesis–neuropathy–ichthyosis–palmoplantar keratoderma syndrome is a very rare inherited (genetic) condition that affects the brain, nerves, and skin. Many people use the short name ...
Cednik (CEDNIK: Cerebral Dysgenesis, Neuropathy, Ichthyosis, Keratoderma) Syndrome is a very rare genetic (inherited) condition that mainly affects the brain, nerves, and skin. The name “CEDNIK” is ...
CEDNIK syndrome is a very rare inherited condition that affects the brain, nerves, and skin at the same time. The name “CEDNIK” is an acronym that describes the main problems: CErebral dysgenesis ...
CCAAT/enhancer-binding protein epsilon–associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (same meaning, using the full protein name). Genetic Diseases Info Center+1. ...
Noonan syndrome is a genetic condition you are born with. It can change how the body grows and how some organs form, especially the heart, the face, the bones, and sometimes the blood clotting ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (JMML) is a rare genetic condition that looks like Noonan syndrome and also raises the risk of a childhood blood cancer called ...
CBL-related disorder is a rare genetic condition caused by a harmful change (pathogenic variant) in the CBL gene. Many people with it look similar to Noonan syndrome, so doctors often call it a ...
A cavernous lymphatic malformation (CLM) is a slow-flow vascular malformation made of abnormally formed lymphatic channels and cyst-like spaces (often many small “caverns”) that collect lymph fluid. ...
Split notochord syndrome (SNS) is a very rare birth defect that affects the early “midline” of the baby’s body, especially the spine, spinal cord, and nearby organs such as the gut (intestines) and ...
Dipygus is an extremely rare birth defect where the lower part of the body is partly or completely doubled, usually with two pelvises and extra legs that grow from the hips or lower back region. It ...
Caudal duplication (also called caudal duplication syndrome) is a very rare birth defect where some body parts in the lower half of the body are partly or completely duplicated. “Caudal” means the ...
Caudal appendage-deafness syndrome is an extremely rare genetic condition. It is a birth defect (congenital syndrome) where a baby is born with a “caudal appendage” (a small tail-like structure on ...
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy (CARASAL) is a very rare inherited brain blood-vessel disease. It mainly affects the tiny arteries and arterioles in the brain (a ...
Pierre Robin sequence–hyperphalangy–clinodactyly syndrome is better known in medical books as Catel–Manzke syndrome. It is a very rare genetic condition. In this syndrome, a baby is born with the ...
Palatodigital syndrome, Catel-Manzke type (usually called Catel-Manzke syndrome) is a very rare genetic bone and face condition that starts before birth. It mainly affects the palate and jaw (the ...
Micrognathia digital syndrome is another name for Catel-Manzke syndrome, a very rare genetic disease. It is mainly defined by two key problems: a very small lower jaw (micrognathia) with Pierre Robin ...
Hyperphalangy-clinodactyly of the index finger with Pierre Robin syndrome is the long, technical name for a very rare birth condition also called Catel-Manzke syndrome. In this condition, a child has ...
Catel-Manzke syndrome is a very rare genetic bone and craniofacial condition. It is mainly defined by two things that appear together: a special deformity of both index fingers (extra small bone, ...
