Question: What are the symptoms of Platyspondylic lethal skeletal dysplasia Torrance type ?
Answer: What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance 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 pelvic girdle bone morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short distal phalanx of finger 90% Short stature 90% Short thorax 90% Short toe 90% Aplasia/Hypoplasia of the lungs 50% Depressed nasal bridge 50% Genu varum 50% Hydrops fetalis 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Polyhydramnios 50% Sprengel anomaly 50% Cleft palate 7.5% Abnormality of the abdominal wall - Autosomal dominant inheritance - Coarse facial features - Decreased cranial base ossification - Disc-like vertebral bodies - Flat acetabular roof - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubic bone - Lethal skeletal dysplasia - Macrocephaly - Metaphyseal cupping - Neonatal short-limb short stature - Protuberant abdomen - Severe limb shortening - Severe platyspondyly - Short long bone - Short neck - Short ribs - Thin ribs - 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