Question: What are the symptoms of Ghosal hematodiaphyseal dysplasia syndrome ?
Answer: What are the signs and symptoms of Ghosal hematodiaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ghosal hematodiaphyseal dysplasia 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% Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Bowing of the long bones 90% Craniofacial hyperostosis 90% Neurological speech impairment 7.5% Splenomegaly 7.5% Hyperostosis cranialis interna 5% Leukopenia 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Diaphyseal dysplasia - Increased bone mineral density - Myelofibrosis - Phenotypic variability - Refractory anemia - Thrombocytopenia - 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