What are the symptoms of Neurofaciodigitorenal syndrome ?
What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal 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 antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - 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.