Rare Disease Library

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Trichodental syndrome

Kersey syndrome

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome