Topic: Spondyloepimetaphyseal dysplasia joint laxity
Question: What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. 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 metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - Ventricular septal defect - 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)