Yoshimura–Takeshita syndrome is an extremely rare genetic condition that was first described in children and is also listed as central nervous system ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Central Nervous System Calcification–Hearing Loss–Tubular Acidosis–Anemia Syndrome is a very rare, usually inherited (autosomal recessive) condition where a ...
Congenital Ondine Curse Syndrome is a rare condition present from birth where the brain does not automatically control breathing well, especially during sleep. ...
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition where the brain’s automatic breathing control does not work well, especially during ...
Autosomal dominant with susceptibility to malignant hyperthermia means a person has an inherited risk (most often from one parent) that can make their body ...
Central cloudy dystrophy of François (often shortened to CCDF) is a very rare condition of the clear front window of the eye (the cornea) where the middle ...
Cenani-Lenz syndrome is a rare condition present from birth. It mainly changes how a baby’s hands and feet form. Fingers or toes may be joined together ...
Cenani–Lenz syndactyly syndrome (often shortened to CLS or CLSS) is a rare condition a baby is born with. It mainly affects how the hands, feet, and forearm ...
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 ...
Celiac disease–epilepsy–cerebral calcification syndrome is a rare condition where three things happen together: celiac disease (a gluten-triggered immune ...
Cerebral dysgenesis–neuropathy–ichthyosis–palmoplantar keratoderma syndrome is a very rare inherited (genetic) condition that affects the brain, nerves, and ...
Cednik (CEDNIK: Cerebral Dysgenesis, Neuropathy, Ichthyosis, Keratoderma) Syndrome is a very rare genetic (inherited) condition that mainly affects the brain, ...
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 ...
CCAAT/enhancer-binding protein epsilon–associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (same meaning, using the full protein ...
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, ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (JMML) is a rare genetic condition that looks like Noonan syndrome and also raises the risk ...
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 ...
A cavernous lymphatic malformation (CLM) is a slow-flow vascular malformation made of abnormally formed lymphatic channels and cyst-like spaces (often many ...
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 ...
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 ...
