Rare Disease Library

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Axial spondylometaphyseal dysplasia

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

Craniodiaphyseal dysplasia

Craniometadiaphyseal dysplasia, wormian bone type

Craniometaphyseal dysplasia

Dappled diaphyseal dysplasia

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

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

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gnathodiaphyseal dysplasia

GDD

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

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 without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

Metaphyseal dysplasia, Braun-Tinschert type

Metatropic dysplasia

Metatropic dwarfism

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

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: Multiple epiphyseal dysplasia, unclassified type

OBSOLETE: Spondyloepimetaphyseal dysplasia

Osteosclerotic metaphyseal dysplasia

Regressive spondylometaphyseal dysplasia

SBDS-related severe neonatal spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type