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Diseases » Cardiofaciocutaneous Syndrome » Glossary

Glossary for Cardiofaciocutaneous Syndrome

Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
Brain symptoms: Symptoms affecting the brain
Dysarthria: Imperfect articulation of speech
High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
Hyperpigmentation: Excess skin pigment or coloration
Hypertrophic cardiomyopathy: Heart damage from thickened heart walls.
Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
Nail abnormality: An abnormality of the finger and/or toe nails.
Nystagmus: Involuntary jerky eye movements
Psychomotor retardation:
Pulmonary valve stenosis: Often a congenital defect but may be caused by such things as rheumatic fever or bacterial endocarditis. Severity depends on the degree of narrowing of the pulmonary valve.
Squint: Eyes not moving together properly
Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
Webbed neck: occurs in congenital malformations