Question: What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. 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 bone mineral density 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the wrist 90% Depressed nasal bridge 90% Kyphosis 90% Malar flattening 90% Micromelia 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the fingernails 50% Abnormality of the larynx 50% Abnormality of the sacrum 50% Anteverted nares 50% Cognitive impairment 50% Enlarged thorax 50% Frontal bossing 50% Genu valgum 50% Macrocephaly 50% Osteoarthritis 50% Patellar aplasia 50% Short nose 50% Tracheomalacia 50% Genu varum 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Pes planus 7.5% Short neck 7.5% Autosomal dominant inheritance - Broad distal phalanx of finger - Carpal bone hypoplasia - Caudal interpedicular narrowing - Congenital hip dislocation - Delayed phalangeal epiphyseal ossification - Dislocated radial head - Flared metaphysis - Flat capital femoral epiphysis - Hypoplasia of midface - Hypoplasia of the capital femoral epiphysis - Irregular epiphyses - Irregular vertebral endplates - Joint laxity - Large joint dislocations - Long distal phalanx of finger - Long proximal phalanx of finger - Metaphyseal irregularity - Narrow femoral neck - Posterior scalloping of vertebral bodies - Slender distal phalanx of finger - Slender proximal phalanx of finger - Small epiphyses - Soft skin - Spinal dysraphism - Spondyloepimetaphyseal dysplasia - Streaky metaphyseal sclerosis - 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