Question: What are the symptoms of Spondyloepimetaphyseal dysplasia X-linked ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia X-linked. 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) Anterior wedging of T11 - Anterior wedging of T12 - Brachydactyly syndrome - Broad long bone diaphyses - Broad metacarpals - Broad phalanx - Cone-shaped epiphyses fused within their metaphyses - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Disproportionate short-trunk short stature - Flat acetabular roof - Hypoplasia of the maxilla - Hypoplasia of the odontoid process - Kyphosis - Limited elbow extension - Long fibula - Long ulna - Metaphyseal irregularity - Narrow pelvis bone - Pectus carinatum - Platyspondyly - Posterior rib cupping - Prominent styloid process of ulna - Radial deviation of the hand - Short clavicles - Short foot - Short long bone - Short metacarpal - Short palm - Short phalanx of finger - Spondyloepimetaphyseal dysplasia - X-linked recessive inheritance - 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