VASCERN PPL-WG Monthly virtual meeting

COLLOMB • April 26, 2019

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Rare diseases covered by VASCERN
Hereditary Haemorrhagic Telangiectasia

Hereditary haemorrhagic telangiectasia

Hereditable Thoracic Aortic Diseases

Aneurysm Osteoarthritis Syndrome

Arterial Tortuosity Syndrome

Familial forms of bicuspid aortic valve with aortopathy

Familial thoracic aortic aneurysm and aortic dissection

Loeys Dietz Syndrome

Marfan Syndrome

Rare disease with thoracic aortic aneurysm and aortic dissection

Medium Sized Arteries

Vascular Ehlers Danlos Syndrome

Pediatric and Primary Lymphedema

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Cholestasis-lymphedema syndrome

Dahlberg-Borer-Newcomer syndrome

Deafness-lymphedema-leukemia syndrome

Genetic primary lymphedema

Hennekam syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Lymphedema

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

Meige disease

Microcephaly-lymphedema-chorioretinopathy syndrome

Milroy disease

Monosomy 22q13

Non-hereditary late-onset primary lymphedema

Noonan syndrome

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

Primary lymphedema with associated anomalies

Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Syndromic lymphedema

Turner syndrome

Turner syndrome due to structural X chromosome anomalies

Yellow nail syndrome

Vascular Anomalies

Arteriovenous malformation

Blue Rubber Bleb Nevus syndrome

Capillary malformation-arteriovenous malformation

Cerebral arteriovenous malformation

CLAPO syndrome

CLOVES syndrome

Cutis Marmorata Telangiectatica Congenita

Diffuse neonatal hemangiomatosis

Facial arteriovenous malformation

Familial cerebral cavernous malformation

Generalized lymphatic anomaly

Glomuvenous malformation

Gorham-Stout syndrome

Infantile hemangioma of rare localization

Kaposiform hemangioendothelioma

Klippel-Trénaunay-Weber syndrome

LUMBAR association

Lymphatic malformation

Macrocystic lymphatic malformation

Maffucci syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

Microcystic lymphatic malformation

Mixed cystic lymphatic malformation

Mucocutaneous venous malformation

Non-involuting congenital hemangioma

Parkes-Weber syndrome

Partially-involuting congenital hemangioma

PHACE association

Primary intralymphatic angioendothelioma

Proteus syndrome

PTEN hamartoma tumor syndrome

Pulmonary arteriovenous malformation

Rapidly involuting congenital hemangioma

Rare capillary malformation

SACRAL association

Spindle cell hemangioma

Sturge-Weber syndrome

Tufted angioma

Venous malformation

Verrucous hemangioma

Neurovascular Diseases

CADASIL

Moyamoya disease
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