Rare Disease Library

Spondyloepiphyseal dysplasia congenita

Congenital spondyloepiphyseal dysplasia · SEDC

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Angel-shaped phalango-epiphyseal dysplasia

ASPED

Atelosteogenesis type I

AO1 · AOI

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal recessive otospondylomegaepiphyseal dysplasia

OSMED

Axial spondylometaphyseal dysplasia

CHST3-related skeletal dysplasia

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

Congenital alveolar capillary dysplasia

ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins

Congenital amyoplasia

Amyoplasia congenita

Congenital aortic valve dysplasia

Congenital tricuspid valve dysplasia

Cono-spondylar dysplasia

Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

MGP-related spondyloepiphyseal dysplasia

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

MIR140-related spondyloepiphyseal dysplasia

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

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

OBSOLETE: Congenital valvular dysplasia

OBSOLETE: Spondyloepimetaphyseal dysplasia

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

OBSOLETE: Unclassified spondylometaphyseal dysplasia

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

Regressive spondylometaphyseal dysplasia

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

SBDS-related severe neonatal spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

SPONASTRIME dysplasia

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

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylodysplastic dysplasia

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

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-abnormal dentition syndrome

SEMDAD

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

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