Rare Disease Library

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

Dysostosis with limb and face anomalies as a major feature

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3