Question: What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. 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 retinal pigmentation 90% Abnormality of color vision 50% Astigmatism 50% Hyperlordosis 50% Hypermetropia 50% Myopia 50% Nystagmus 50% Photophobia 50% Scoliosis 50% Visual impairment 50% Brachydactyly syndrome 7.5% Limitation of joint mobility 7.5% Abnormality of macular pigmentation - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Coxa vara - Cupped ribs - Dental malocclusion - Femoral bowing - Hypoplastic inferior ilia - Joint stiffness - Metaphyseal cupping - Metaphyseal irregularity - Metaphyseal widening - Narrow greater sacrosciatic notches - Ovoid vertebral bodies - Postnatal growth retardation - Progressive visual loss - Recurrent otitis media - Rhizomelia - Severe platyspondyly - Short finger - Short metacarpal - Spondylometaphyseal dysplasia - Tibial bowing - 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