Question: What are the symptoms of Lethal chondrodysplasia Moerman type ?
Answer: What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. 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) Abnormality of epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 90% 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