Question: What are the symptoms of Microcephaly cervical spine fusion anomalies ?
Answer: What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. 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 the ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - 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