Rare Disease Library

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Axial spondylometaphyseal dysplasia

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

CHST3-related skeletal dysplasia

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

Cono-spondylar dysplasia

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

Craniometadiaphyseal dysplasia, wormian bone type

Craniometaphyseal dysplasia

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

Frontometaphyseal dysplasia

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Kaitila type

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

Metaphyseal chondrodysplasia, Spahr type

Metaphyseal dysplasia, Braun-Tinschert type

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

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

Multiple metaphyseal dysplasia

OBSOLETE: Epimetaphyseal skeletal dysplasia

OBSOLETE: Spondyloepimetaphyseal dysplasia

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

OBSOLETE: Unclassified spondylometaphyseal dysplasia

Osteosclerotic metaphyseal dysplasia

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Regressive spondylometaphyseal dysplasia

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