Question: What are the symptoms of Holzgreve syndrome ?
Answer: What are the signs and symptoms of Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve 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) Aplasia/Hypoplasia of the lungs 90% Cleft palate 90% Hand polydactyly 90% Intrauterine growth retardation 90% Oligohydramnios 90% Renal hypoplasia/aplasia 90% Abnormal vertebral ossification 50% Abnormality of calvarial morphology 50% Abnormality of the mesentery 50% Abnormality of the metacarpal bones 50% Abnormality of the ribs 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the tongue 50% Bifid tongue 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Macrotia 50% Single umbilical artery 50% Webbed neck 50% Autosomal recessive inheritance - Cleft upper lip - Hypoplastic left heart - Renal agenesis - Renal hypoplasia - 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