What are the symptoms of Ellis-Van Creveld syndrome ?
What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld 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) Abnormality of the fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - Talipes equinovarus - 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.