Question: What are the symptoms of Roifman syndrome ?
Answer: What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman 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) Abnormality of the cardiovascular system - Abnormality of the nasopharynx - Anteverted nares - Asthma - Blepharophimosis - Brachydactyly syndrome - Broad femoral head - Broad femoral neck - Clinodactyly of the 5th finger - Cutaneous finger syndactyly - Delayed puberty - Eczema - Eosinophilia - Hepatomegaly - Hip contracture - Hyperconvex nail - Hypermetropia - Hypogonadotrophic hypogonadism - Hypoplasia of the capital femoral epiphysis - Infancy onset short-trunk short stature - Intellectual disability, borderline - Intellectual disability, mild - Intrauterine growth retardation - Irregular capital femoral epiphysis - Irregular vertebral endplates - Long eyelashes - Long philtrum - Lymphadenopathy - Muscular hypotonia - Narrow nose - Otitis media - Portal fibrosis - Premature birth - Prominent eyelashes - Recurrent infections - Recurrent pneumonia - Recurrent sinusitis - Retinal dystrophy - Short 3rd metacarpal - Short 4th metacarpal - Short fifth metatarsal - Short fourth metatarsal - Short middle phalanx of finger - Single transverse palmar crease - Splenomegaly - Spondyloepiphyseal dysplasia - Strabismus - 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.
Source: GARD