Question: What are the symptoms of Spondylometaphyseal dysplasia Sedaghatian type ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian 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) Brachydactyly syndrome 90% Delayed skeletal maturation 90% Platyspondyly 90% Sprengel anomaly 90% Sudden cardiac death 90% Narrow chest 50% Accelerated skeletal maturation 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% 11 pairs of ribs - Atria septal defect - Autosomal recessive inheritance - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Cupped ribs - Delayed epiphyseal ossification - Depressed nasal bridge - Flared iliac wings - Flat acetabular roof - Focal lissencephaly - Iliac crest serration - Irregular tarsal bones - Large posterior fontanelle - Long fibula - Metaphyseal cupping - Metaphyseal irregularity - Muscular hypotonia - Narrow greater sacrosciatic notches - Porencephaly - Posteriorly rotated ears - Redundant skin - Rhizomelia - Short finger - Short long bone - Short metacarpal - Short neck - Short phalanx of finger - Short ribs - Short toe - Spondylometaphyseal dysplasia - Talipes equinovarus - Turricephaly - Widened sacrosciatic notch - 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