What are the symptoms of Tranebjaerg Svejgaard syndrome ?
What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard 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) Cognitive impairment 90% Dry skin 90% High forehead 90% Macrotia 90% Muscular hypotonia 90% Neurological speech impairment 90% Open mouth 90% Seizures 90% Strabismus 90% Abnormality of the palate 50% Abnormality of the tongue 50% Anteverted nares 50% Incoordination 50% Mandibular prognathia 50% Respiratory insufficiency 50% Scoliosis 50% Thick lower lip vermilion 50% Wide mouth 50% Wide nasal bridge 50% Arachnodactyly 7.5% Camptodactyly of finger 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Hemiplegia/hemiparesis 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Long penis 7.5% Palmoplantar keratoderma 7.5% Proximal placement of thumb 7.5% Single transverse palmar crease 7.5% Intellectual disability - Psoriasis - X-linked inheritance - 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.