Question: What are the symptoms of Sakati syndrome ?
Answer: What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati 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 cortical bone morphology 90% Abnormality of the metaphyses 90% Hernia of the abdominal wall 90% Hyperextensible skin 90% Joint hypermobility 90% Macrotia 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Synophrys 90% Abnormality of the pinna - Autosomal dominant inheritance - Broad hallux - Broad thumb - Craniosynostosis - Dental crowding - Hypertelorism - Hypoplasia of the maxilla - Lower limb undergrowth - Low-set ears - Malar flattening - Mandibular prognathia - Oxycephaly - Preaxial hand polydactyly - Shallow orbits - Short neck - Small face - Syndactyly - 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