Question: What are the symptoms of Neurofibromatosis-Noonan syndrome ?
Answer: What are the signs and symptoms of Neurofibromatosis-Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cafe-au-lait spot 90% Cognitive impairment 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Low-set, posteriorly rotated ears 90% Ptosis 90% Short stature 90% Webbed neck 90% Abnormality of coagulation 50% Abnormality of the lymphatic system 50% Abnormality of the thorax 50% Cryptorchidism 50% Feeding difficulties in infancy 50% Lisch nodules 5% Autosomal dominant inheritance - Axillary freckling - Cubitus valgus - Delayed speech and language development - Depressed nasal bridge - Epicanthus - Hypoplasia of midface - Inguinal freckling - Low posterior hairline - Low-set ears - Macrocephaly - Malar flattening - Muscle weakness - Neurofibromas - Optic glioma - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Prominent nasolabial fold - Pulmonic stenosis - Scoliosis - Secundum atrial septal defect - Short neck - Specific learning disability - Superior pectus carinatum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD