skeletal dysplasias

definition

· syndrome characterised by generalised or localised faults in skeletal growth

· dysplasia is generalised abnormality in growth

· dysostosis is maldevelopment of single bone or body segment

· dwarfism is pathological diminution of height below lower end of normal range for that population

· porportionate dwarfism has equal involvement of all body segments

· disproportionate dwarfism has unequal involvement and may be short-limb or short-trunk form

classification

Disorders around the growth plate

Predominantly epiphyseal involvement

· multiple epiphyseal dysplasia

· chondrodysplasia punctata

Predominantly metaphyseal involvement

· achondroplasia

· hypochondroplasia

· metaphyseal chondroplasia

· vitamin D-resistant rickets

With major vertebral involvement

· spondyolepiphyseal dysplasia

· pseudo-achondroplasia

· diastrophic dysplasia

Changes in bone density

Increased bone density

· osteopetrosis

· pyknodysostosis

Decreased bone density

· osteogenesis imperfecta

· craniometaphyseal dysplasia

· metaphyseal dysplasia

· diaphyseal dysplasia

Craniofacial abnormalities

· craniofacial dysostosis

· Apert’s syndrome

Vertebral anomalies

· Klippel-Fiel syndrome

· Sprengel’s deformity

Storage disorders

· Hurler’s syndrome

· Hunter’s syndrome

· Gaucher’s disease

Abnormalities of cartilage and fibrous tissue

· multiple exostoses

· enchondromatosis

Miscellaneous

· osteopoikilosis

· meolrheostosis

· osteopathica striata

· craniocleidal dysplasia

· Larsen’s syndrome

· chondroectodermal dysplasia

· nail-patella syndrome

· Madelung’s deformity

topographical

Epiphyseal / spinal

· spondyloepiphyseal dysplasia

· multiple epiphyseal dysplasia

Physeal / metaphyseal

· achondroplasia

· metaphyseal chondrodysplasia

· dysplasia epiphysealis hemimelica

· diastrophic dwarfism

· cleidocranial dysplasia

· chondrodysplasia punctata

· Ollier’s / Mafucci’s

· Kneist

Diaphyseal

· progressive diaphyseal dysplasia

Generalised

· mucopolysaccharidoses

morphological

Proportionate

· diastrophic dwarfism

· cleidocranial dysostosis

· mucopolysaccharidoses

Disproportionate

Short limb

· achondroplasia

· metaphyseal chondrodysplasia

· multiple epiphyseal dysplasia

· dysplasia epiphysealis hemimelica

· progressive diaphyseal dysplasia

Short trunk

· spondyloepiphyseal dysplasia

· Kneist syndrome