Rare Disease Library

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Congenital joint dislocations

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

MIR140-related spondyloepiphyseal dysplasia

MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

SEMD-JL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

Spondyloepimetaphyseal dysplasia, Bieganski type

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

Spondyloepimetaphyseal dysplasia, Handigodu type

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

Spondyloepimetaphyseal dysplasia, matrilin-3 type

SEMD, MATN3-related · SEMD, matrilin-3 type

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, Pakistani type

Spondyloepimetaphyseal dysplasia, Shohat type

SEMD, Shohat type

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

Spondyloepiphyseal dysplasia congenita

Congenital spondyloepiphyseal dysplasia · SEDC

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Spondyloepiphyseal dysplasia, Nishimura type

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, MacDermot type

Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome

Spondyloepiphyseal dysplasia, Omani type

Spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

Spondylometaphyseal dysplasia, A4 type