What are the symptoms of Rhizomelic syndrome ?
What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic 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 form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormality of epiphysis morphology 90% Abnormality of the elbow 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the knees 90% Abnormality of the pulmonary artery 90% Abnormality of the tongue 90% Acne 90% Brachydactyly syndrome 90% Cognitive impairment 90% Depressed nasal bridge 90% Limb undergrowth 90% Limitation of joint mobility 90% Microcephaly 90% Preaxial hand polydactyly 90% Short distal phalanx of finger 90% Short neck 90% Short stature 90% Triphalangeal thumb 90% Cleft palate 50% Kyphosis 50% Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Complete duplication of thumb phalanx - Hip dislocation - Pulmonic stenosis - Rhizomelia - Wide anterior fontanel - 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.