Question: What are the symptoms of Harrod Doman Keele syndrome ?
Answer: What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele 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) Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - 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