Rare Disease Library

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Acromelic dysplasia

Acromicric dysplasia

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Astley-Kendall dysplasia

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

Boomerang dysplasia

Campomelic dysplasia

Campomelic dwarfism

Campomelic dysplasia and related disorders

Bent bone dysplasia

Cerebral cortical dysplasia

Brain cortical dysplasia

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Cleidocranial dysplasia

Cleidocranial dysostosis

Cono-spondylar dysplasia

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

Craniodiaphyseal dysplasia

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Craniofrontonasal dysplasia

CFND · CFNS

Craniometaphyseal dysplasia

Dentin dysplasia

DD

Desbuquois syndrome

Desbuquois dysplasia · DBQD

Diastrophic dysplasia

Diastrophic dwarfism

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

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frontonasal dysplasia

Median cleft face syndrome

Greenberg dysplasia

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

Heart-hand syndrome

Atriodigital dysplasia

Kniest dysplasia

Kyphomelic dysplasia

Mandibuloacral dysplasia

MAD

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Metatropic dysplasia

Metatropic dwarfism

Multiple epiphyseal dysplasia

MED · EDM

Omodysplasia

Otodental syndrome

Globodontia · Otodental dysplasia

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Pontine tegmental cap dysplasia

PTCD

Renal dysplasia

Kidney dysplasia

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

Specific language disorder

Dysphasia

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Supratip dysplasia

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia