What are the symptoms of Tetra-amelia syndrome ?
What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia 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 outer ear 90% Amelia 90% Aplasia/Hypoplasia involving the nose 90% Aplasia/Hypoplasia of the lungs 90% Hydrocephalus 90% Oral cleft 90% Polyhydramnios 90% Abnormal lung lobation 50% Abnormal vertebral ossification 50% Abnormality of the larynx 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the nipples 50% Cataract 50% Cryptorchidism 50% Iris coloboma 50% Microcornea 50% Multicystic kidney dysplasia 50% Narrow mouth 50% Optic atrophy 50% Septo-optic dysplasia 50% Tracheal stenosis 50% Urogenital fistula 50% Abnormality of the diaphragm - Absent external genitalia - Adrenal gland agenesis - Anal atresia - Asplenia - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Gastroschisis - Heterogeneous - Hypoplasia of the fallopian tube - Hypoplastic pelvis - Low-set ears - Microphthalmia - Peripheral pulmonary vessel aplasia - Pulmonary hypoplasia - Renal agenesis - Single naris - Single umbilical artery - Tetraamelia - Urethral atresia - Vaginal atresia - 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.