Question: What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. 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% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal 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