Question: What are the symptoms of Macrocephaly-capillary malformation ?
Answer: What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. 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) Arteriovenous malformation 90% Asymmetric growth 90% Facial asymmetry 90% Finger syndactyly 90% Foot polydactyly 90% Hand polydactyly 90% Macrocephaly 90% Telangiectasia of the skin 90% Toe syndactyly 90% Visceral angiomatosis 90% Wide mouth 90% Aplasia/Hypoplasia of the cerebellum 50% Cognitive impairment 50% Cutis marmorata 50% Frontal bossing 50% Full cheeks 50% High forehead 50% Hydrocephalus 50% Hypermelanotic macule 50% Joint hypermobility 50% Muscular hypotonia 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Arnold-Chiari malformation 7.5% Arrhythmia 7.5% Cerebral ischemia 7.5% Deeply set eye 7.5% Depressed nasal bridge 7.5% Optic atrophy 7.5% Broad forehead - Cavum septum pellucidum - Epicanthus - Hernia - Hypertelorism - Intellectual disability - Joint laxity - Large earlobe - Leukemia - Megalencephaly - Meningioma - Microphthalmia - Nephroblastoma (Wilms tumor) - Overgrowth - Polydactyly - Polymicrogyria - Progressive macrocephaly - Seizures - Smooth philtrum - Somatic mutation - Sporadic - Syndactyly - 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