Neurofibromatosis-Noonan syndrome

Overview

Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).

Symptoms

The list of signs and symptoms mentioned in various sources for Neurofibromatosis-Noonan syndrome includes the 42 symptoms listed below: * Hyperpigmented areas of skin * Hypopigmented areas of skin * Skin lumps * Nerve tumors * Short stature * Mental retardation * Epicanthal folds * Drooping upper eyelid * Widely spaced eyes * Low nasal bridge * Down-slanting palpebral fissures * Myopia * Ieratoconus * Strabismus * Nystagmus * Low-set auricles * Abnormal auricles * Dental malocclusion * Wide mouth * Prominent upper lip * Protruding upper lip * Retrognathia * Low neck hairline * Short neck * Webbed neck * Shield chest * Sunken chest * Pectus carinatum * Cubitus valgus * Spine abnormalities * Pulmonary valve stenosis * Heart abnormalities * Left ventricular hypertrophy * Septal defects * Patent ductus arteriosus * Branch stenosis of pulmonary arteries * Small penis * Undescended testes * Blood coagulation defects * Blood platelet system defects * Von Willebrand disease * Thrombocytopenia

Diagnosis

These home medical tests may be relevant to Neurofibromatosis-Noonan syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests