Question: What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ?
Answer: What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with 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) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - 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