Topic: Mowat-Wilson syndrome
Question: What are the symptoms of Mowat-Wilson syndrome ?
Answer: What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson 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) Intellectual disability 100% Abnormality of the eyebrow 90% Cognitive impairment 90% Deeply set eye 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Large earlobe 90% Microcephaly 90% Seizures 90% Aganglionic megacolon 62% Aplasia/Hypoplasia of the corpus callosum 50% Broad columella 50% Constipation 50% Cryptorchidism 50% Cupped ear 50% Displacement of the external urethral meatus 50% Epicanthus 50% Esotropia 50% Fine hair 50% Hypertelorism 50% Iris coloboma 50% Low hanging columella 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Open mouth 50% Pointed chin 50% Prominent nasal tip 50% Ptosis 50% Short stature 50% Tapered finger 50% Uplifted earlobe 50% Wide nasal bridge 50% Agenesis of corpus callosum 42% Bifid scrotum 33% Generalized muscle hypertrophy 33% Hypospadias 33% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Camptodactyly of finger 7.5% Cerebral cortical atrophy 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Deep plantar creases 7.5% Finger syndactyly 7.5% Hallux valgus 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Strabismus 7.5% Submucous cleft hard palate 7.5% Supernumerary nipple 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Abdominal distention - Abnormality of metabolism/homeostasis - Abnormality of the abdominal wall - Abnormality of the rib cage - Absent speech - Atria septal defect - Autosomal dominant inheritance - Broad eyebrow - Delayed eruption of teeth - Drooling - Happy demeanor - Hypoplasia of the corpus callosum - Intellectual disability, moderate - Motor delay - Pectus carinatum - Pectus excavatum - Pulmonary artery sling - Pulmonary artery stenosis - Pulmonic stenosis - Vomiting - Widely spaced teeth - 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)