Question: What are the symptoms of Spondylocarpotarsal synostosis syndrome ?
Answer: What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis syndrome. 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) Abnormal form of the vertebral bodies 90% Hyperlordosis 90% Limitation of joint mobility 90% Short thorax 90% Synostosis of carpal bones 90% Vertebral segmentation defect 90% Cleft palate 7.5% Conductive hearing impairment 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Block vertebrae - Broad face - Broad nasal tip - C2-C3 subluxation - Carpal synostosis - Cataract - Clinodactyly of the 5th finger - Delayed skeletal maturation - Disproportionate short-trunk short stature - Epiphyseal dysplasia - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the odontoid process - Mixed hearing impairment - Pes planus - Preauricular skin tag - Rarefaction of retinal pigmentation - Renal cyst - Restrictive lung disease - Scoliosis - Short neck - Short nose - Tarsal synostosis - 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