Question: What are the symptoms of CHILD syndrome ?
Answer: What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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) Congenital ichthyosiform erythroderma 100% Stillbirth 99% Abnormality of bone mineral density 90% Abnormality of the ribs 90% Abnormality of the thyroid gland 90% Amniotic constriction ring 90% Aplasia of the pectoralis major muscle 90% Aplasia/hypoplasia of the extremities 90% Asymmetric growth 90% Atria septal defect 90% Cognitive impairment 90% Epiphyseal stippling 90% Flexion contracture 90% Hypoplastic left heart 90% Ichthyosis 90% Skin rash 90% Sprengel anomaly 90% Thin skin 90% Upper limb phocomelia 90% Abnormality of the nail 75% Hyperkeratosis 75% Parakeratosis 75% Cerebral cortical atrophy 50% Abnormality of cardiovascular system morphology 7.5% Abnormality of epiphysis morphology 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the fingernails 7.5% Abnormality of the heart valves 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the lungs 7.5% Arteriovenous malformation 7.5% Cleft palate 7.5% Congenital hip dislocation 7.5% Dry skin 7.5% Elevated 8(9)-cholestenol 7.5% Elevated 8-dehydrocholesterol 7.5% Hearing impairment 7.5% Hypoplastic pelvis 7.5% Hypoplastic scapulae 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Myelomeningocele 7.5% Polycystic ovaries 7.5% Pulmonary hypoplasia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short clavicles 7.5% Short ribs 7.5% Short stature 7.5% Ventricular septal defect 7.5% Vertebral hypoplasia 7.5% Adrenal hypoplasia 5% Aplasia/Hypoplasia involving the central nervous system 5% Thyroid hypoplasia 5% Abnormality of the cardiac septa - Cleft upper lip - Heterogeneous - Hydronephrosis - Intellectual disability, mild - Mild intrauterine growth retardation - Single ventricle - Umbilical hernia - X-linked dominant 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