Rare Disease Library

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Intellectual disability-balding-patella luxation-acromicria syndrome

Scholte-Begeer-van Essen syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

OBSOLETE: Van den Bosch syndrome

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome