What are the symptoms of Campomelia Cumming type ?
What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming 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 the ribs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cleft palate 90% Clubbing of toes 90% Cystic hygroma 90% Dolichocephaly 90% Micromelia 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Polycystic kidney dysplasia 90% Prematurely aged appearance 90% Skeletal dysplasia 90% Abnormal vertebral ossification 50% Aplasia/Hypoplasia of the lungs 50% Hepatomegaly 50% Hydrops fetalis 50% Sacrococcygeal pilonidal abnormality 50% Abnormality of the intestine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Coarse facial features 7.5% Lymphedema 7.5% Autosomal recessive inheritance - Pancreatic cysts - Polycystic liver disease - Polysplenia - Short stature - 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.