Rare Disease Library

Greenberg dysplasia

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

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

Acromelic dysplasia

Acromesomelic dysplasia

Acromicric dysplasia

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

Boomerang dysplasia

Campomelic dysplasia

Campomelic dwarfism

Campomelic dysplasia and related disorders

Bent bone dysplasia

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Cleidocranial dysplasia

Cleidocranial dysostosis

Dentin dysplasia

DD

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Desbuquois syndrome

Desbuquois dysplasia · DBQD

Diastrophic dysplasia

Diastrophic dwarfism

Dysplasia epiphysealis hemimelica

Trevor disease

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

Fibromuscular dysplasia

FMD

Frontonasal dysplasia

Median cleft face syndrome

Geleophysic dysplasia

Geleophysic dwarfism

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Heart-hand syndrome

Atriodigital dysplasia

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Kniest dysplasia

Kyphomelic dysplasia

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Metatropic dysplasia

Metatropic dwarfism

Omodysplasia

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

Osteofibrous dysplasia

OFD

Otodental syndrome

Globodontia · Otodental dysplasia

Otomandibular dysplasia

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Renal dysplasia

Kidney dysplasia

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

Schneckenbecken dysplasia

Chondrodysplasia with snail-like pelvis · SLC35D1-CDG

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Slender bone dysplasia