GARD Rare Disease Listings

VACTERL association

Also known as: VATER association

VACTERL association with hydrocephaly, X-linked

Also known as: X-linked VACTERL-H syndrome

VACTERL hydrocephaly

Also known as: Vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies and hydrocephaly VACTERL association with hydrocephaly

Vagina, absence of

Also known as: Absence of vagina

Vaginal cancer

Vagneur Triolle Ripert syndrome

Also known as: Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age

Valinemia

Also known as: Valine transaminase deficiency Hypervalinemia

Van Benthem-Driessen-Hanveld syndrome

Also known as: Cryptorchidism arachnodactyly intellectual deficit Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Bogaert-Hozay syndrome

Also known as: A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects Hozay’s syndrome Acro-osteolysis-facial dysplasia syndrome

Van Buchem disease type 2

Also known as: VBCH2 Osteosclerosis of the skull and enlarged mandible

Van Den Bosch syndrome

Also known as: Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity

Van den Ende Gupta syndrome

Also known as: Marden Walker like syndrome without psychomotor retardation VDEGS Blepharophimosis, arachnodactyly, and congenital contractures Marden-Walker-like syndrome

Van der Woude syndrome

Also known as: VDWS VWS Lip pit syndrome LPS Cleft lip and/or palate with mucous cysts of lower lip

Van der Woude syndrome 2

Also known as: VWS2

Variant Creutzfeldt-Jakob disease

Also known as: Variant Creutzfeldt-Jacob disease VCJD Variant CJD New variant of CJD Nv-CJD