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Capillary disorder
- ... a dozen people have been diagnosed with the disorder. Microcephaly-capillary malformation syndrome results from mutations in the STAMBP ... parent. MIC-CAP syndrome Genetic Testing Registry: ... MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP PubMed Carter ...
- Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) ...
- ... health problems.In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious ...
- ... Testing Registry: Persistent fetal circulation syndrome Congenital alveolar capillary dysplasia National Organization for Rare Disorders (NORD) ClinicalTrials.gov ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT ...
- ... gene have been identified in people with microcephaly-capillary malformation syndrome, an inherited disorder characterized by an abnormally small head size (microcephaly), ...
- ... Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am ...
- ... syndrome Parkes Weber syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1 PubMed Bayrak-Toydemir ...
- ... Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. ...
- ... Hopkins E, Graham JM Jr, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body ...
- ... this condition. More About This Health Condition Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder that affects the development of blood vessels in ...