Question: What are the symptoms of Wittwer syndrome ?
Answer: What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer 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 fontanelles or cranial sutures 90% Anteverted nares 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Delayed skeletal maturation 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Seizures 90% Short stature 90% Single transverse palmar crease 90% Thin vermilion border 90% Abnormality of the ureter 50% Cryptorchidism 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormal lung lobation 7.5% Abnormality of the teeth 7.5% Abnormality of the thorax 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Aplasia/Hypoplasia of the lungs 7.5% Corneal dystrophy 7.5% Displacement of the external urethral meatus 7.5% Intestinal malrotation 7.5% Optic atrophy 7.5% Premature graying of hair 7.5% Growth delay - Intellectual disability - 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