Question: What are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ?
Answer: What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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) Anterior scalloping of vertebral bodies - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Brachydactyly syndrome - Carpal bone hypoplasia - Coarse facial features - Cubitus valgus - Cuboid-shaped vertebral bodies - Curly eyelashes - Delayed epiphyseal ossification - Depressed nasal bridge - Flexion contracture - High pitched voice - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac wing - Long philtrum - Malar flattening - Microtia - Pectus excavatum - Platyspondyly - Postnatal growth retardation - Restrictive lung disease - Rhizo-meso-acromelic limb shortening - Round face - Short foot - Short long bone - Short metacarpal - Short neck - Short palm - Short phalanx of finger - Short toe - Single interphalangeal crease of fifth finger - Small epiphyses - Spondyloepiphyseal dysplasia - Tapered metacarpals - Tapered phalanx of finger - Thick lower lip vermilion - Thick upper lip vermilion - Thoracic hypoplasia - Upslanted palpebral fissure - Wide mouth - Wide nasal bridge - 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