Geneticist
VASCERN HTAD European Reference Centre
Center for Inherited Cardiovascular Diseases, IRCCS Foundation Policlinico San Matteo
Fondazione IRCCS Policlinico San Matteo
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Rare diseases covered by VASCERN
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Cholestasis-lymphedema syndrome
Dahlberg-Borer-Newcomer syndrome
Deafness-lymphedema-leukemia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome
Lymphedema-distichiasis syndrome
Lymphedema-posterior choanal atresia syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Non-hereditary late-onset primary lymphedema
Noonan syndrome and Noonan-related syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Primary lymphedema with associated anomalies
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Blue Rubber Bleb Nevus syndrome
Capillary malformation-arteriovenous malformation
Cerebral arteriovenous malformation
Cutis Marmorata Telangiectatica Congenita
Diffuse neonatal hemangiomatosis
Facial arteriovenous malformation
Familial cerebral cavernous malformation
Infantile hemangioma of rare localization
Kaposiform hemangioendothelioma
Klippel-Trénaunay-Weber syndrome
Macrocystic lymphatic malformation
Megalencephaly-capillary malformation-polymicrogyria syndrome
Microcystic lymphatic malformation
Mixed cystic lymphatic malformation
Mucocutaneous venous malformation
Non-involuting congenital hemangioma
Partially-involuting congenital hemangioma
Primary intralymphatic angioendothelioma
Pulmonary arteriovenous malformation
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Recent Posts
- New Nature Reviews Disease Primer on Marfan syndrome by HTAD WG now online!
- Guest case from Portugal discussed in the CPMS
- VASCERN Registries project update
- Recording of VASCERN Webinar: On collagen, the Ehlers-Danlos Syndromes and vascular fragility: what’s in a name? now available!
- New Do’s and Don’ts Factsheet on Skin Care & updated Patient Pathway from the Pediatric and Primary Lymphedema Working Group