Question: What are the symptoms of Thakker-Donnai syndrome ?
Answer: What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai 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) Anteverted nares 90% Downturned corners of mouth 90% Hypertelorism 90% Long palpebral fissure 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow mouth 90% Short neck 90% Upslanted palpebral fissure 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the upper urinary tract 50% Aplasia/Hypoplasia of the corpus callosum 50% Communicating hydrocephalus 50% Congenital diaphragmatic hernia 50% Intrauterine growth retardation 50% Macrotia 50% Tetralogy of Fallot 50% Tracheoesophageal fistula 50% Transposition of the great arteries 50% Ventricular septal defect 50% Abnormal facial shape - Abnormalities of placenta or umbilical cord - Agenesis of corpus callosum - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Hemivertebrae - Hydrocephalus - Hydronephrosis - Long ear - Low posterior hairline - Posteriorly rotated ears - Rectovaginal fistula - Short nose - Wide nasal bridge - 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