What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ?
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. 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 rib cupping - Brachydactyly syndrome - Broad foot - Broad nasal tip - Broad palm - Coarse facial features - Cone-shaped capital femoral epiphysis - Coxa vara - Delayed CNS myelination - Delayed skeletal maturation - Depressed nasal bridge - Flared iliac wings - Flexion contracture - High palate - Hypertelorism - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Intellectual disability, progressive - Low anterior hairline - Low-set ears - Malar flattening - Metaphyseal cupping of metacarpals - Metaphyseal widening - Optic disc pallor - Peg-like central prominence of distal tibial metaphyses - Platyspondyly - Prominent sternum - Seizures - Short femoral neck - Short finger - Short neck - Short stature - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thick eyebrow - Thin ribs - Thoracic kyphosis - Widened subarachnoid space - Wormian bones - X-linked recessive inheritance - 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.