Question: What are the symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan 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) Absent nasal bridge 3/3 Barrel-shaped chest 3/3 Broad thumb 3/3 Joint laxity 3/3 Low-set ears 3/3 Lumbar hyperlordosis 3/3 Malar flattening 3/3 Mandibular prognathia 3/3 Mesomelia 3/3 Posteriorly rotated ears 3/3 Relative macrocephaly 3/3 Rhizomelia 3/3 Short finger 3/3 Short neck 3/3 Hoarse voice 2/3 Autosomal recessive inheritance - Spondyloepimetaphyseal dysplasia - 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