Question: What are the symptoms of Johnson neuroectodermal syndrome ?
Answer: What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 genital system 90% Alopecia 90% Abnormality of the eyelashes 50% Abnormality of the pinna 50% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Cognitive impairment 50% Conductive hearing impairment 50% Facial asymmetry 50% Facial palsy 50% Short stature 50% Abnormal nasal morphology 7.5% Abnormality of the sense of smell 7.5% Cafe-au-lait spot 7.5% Choanal atresia 7.5% Cleft palate 7.5% Developmental regression 7.5% Hypohidrosis 7.5% Microcephaly 7.5% Preaxial hand polydactyly 7.5% Tetralogy of Fallot 7.5% Choanal stenosis 5% Decreased testicular size 5% Micropenis 5% Patent ductus arteriosus 5% Retrognathia 5% Right aortic arch 5% Sparse hair 5% Ventricular septal defect 5% Absent eyebrow - Absent eyelashes - Anosmia - Atresia of the external auditory canal - Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - Intellectual disability - Microtia - Multiple cafe-au-lait spots - Protruding ear - 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