Rare Disease Library

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Lethal congenital contracture syndrome

LCCS

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lethal congenital contracture syndrome type 3

LCCS3

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Osteogenesis imperfecta type 4

OI type 4

Osteogenesis imperfecta type 5

OI type 5

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome