Question: What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?
Answer: What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - 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