Rare Disease Library

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Chondrodysplasia punctata, tibial-metacarpal type

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

Metaphyseal chondrodysplasia, Spahr type

Metaphyseal dysplasia, Braun-Tinschert type

Metatropic dysplasia

Metatropic dwarfism

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type