Rare Disease Library

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

CHST3-related skeletal dysplasia

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

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Primary bone dysplasia with decreased bone density

Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome