Question: What are the symptoms of McDonough syndrome ?
Answer: What are the signs and symptoms of McDonough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McDonough 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) Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Dental malocclusion 90% Kyphosis 90% Macrotia 90% Prominent supraorbital ridges 90% Scoliosis 90% Short stature 90% Strabismus 90% Synophrys 90% Abnormality of the palate 50% Blepharophimosis 50% Cryptorchidism 50% Decreased body weight 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Pectus excavatum 50% Ptosis 50% Short philtrum 50% Single transverse palmar crease 50% Underdeveloped nasal alae 50% Abnormal facial shape - Aortic valve stenosis - Atria septal defect - Autosomal recessive inheritance - Clinodactyly - Diastasis recti - Hypoplastic toenails - Intellectual disability - Kyphoscoliosis - Pectus carinatum - Prominent nose - Pulmonic stenosis - Radial deviation of finger - Sparse hair - Upslanted palpebral fissure - Ventricular septal defect - 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