Question: What are the symptoms of Omenn syndrome ?
Answer: What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. Life-threatening infections caused by common viral, bacterial, and fungal pathogens occur next. Lymphadenopathy and hepatosplenomegaly, both symptoms unique to Omenn syndrome, develop next. The Human Phenotype Ontology provides the following list of signs and symptoms for Omenn 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) Alopecia 90% Hepatomegaly 90% Lymphadenopathy 90% Malabsorption 90% Severe combined immunodeficiency 90% Abnormality of eosinophils 50% Abnormality of temperature regulation 50% Aplasia/Hypoplasia of the eyebrow 50% Dry skin 50% Edema 50% Leukocytosis 50% Pruritus 50% Splenomegaly 50% Thickened skin 50% Abnormality of the fingernails 7.5% Abnormality of the metaphyses 7.5% Anemia 7.5% Autoimmunity 7.5% Hypothyroidism 7.5% Lymphoma 7.5% Nephrotic syndrome 7.5% Sepsis 7.5% Thyroiditis 7.5% Autosomal recessive inheritance - B lymphocytopenia - Diarrhea - Eosinophilia - Erythroderma - Failure to thrive - Hypoplasia of the thymus - Hypoproteinemia - Pneumonia - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Severe B lymphocytopenia - 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