Question: What is (are) CHOPS syndrome ?
Answer: CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: What are the symptoms of CHOPS syndrome ?
Answer: What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS 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) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - 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