Dwarfism (Subscribe)

Classification of Dysplasias

What is the meaning? The terms camptomelic and campomelic refer to the bowing of the femur and tibia, (‘campto’ meaning bent and ‘melia’ refers to the limbs) commonly seen in this disorder. Some individuals can have this condition without any appreciable bowing of the long bones, called “acampomelic” camptomelic dysplasia. The term ‘campomelic or camptomelic syndrome’ has also been used to stress the presence of significant abnormalities outside of the musculoskeletal system.

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: Hypophosphatemic Vitamin D-resistant rickets Kniest Dysplasia Marfan's Syndrome Metaphyseal Chondrodysplasia Metatrophic Dysplasia: Morquio's Syndrome: Mucopolysaccharidoses Multiple Cartilaginous ...

Abstract A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary ...

Index site with links to Dwarfism resources (includes mythology)

Radiology teaching site from UCLA

What is the meaning? Hypochondroplasia is a type of dwarfism that is less severe than achondroplasia. The estimated incidence is 3-4 per million live births.

Kniest dysplasia is rare, severe form of cartilage dysplasia caused by a defect in type II collagen and results in short-stature, typical facial features, spine deformities, near-sightedness and large, stiff joints with contractures.

A changing clinical picture characterizes this condition as the disease progresses over time. The child initially has shortened limbs and the trunk height is preserved (short-limbed dwarfism). As the condition progresses, kyphoscoliosis of the spine develops that decreases trunk height (short-trunk dwarfism). Apparent shortening of the limbs also occurs over time, due to progressive joint contractures. The word “Metatropic” is derived from the Greek word “Metatropos”, meaning changing form.

This is relatively common disorder of bone and cartilage development that results in delayed appearance of epiphyses, short stature and early onset degenerative arthritis. There are 2 types of MED, which is usually autosomal dominant but can be recessive. The more severe form (Fairbank type or type I) is caused by an abnormality in a protein called ‘cartilage oligomeric matrix protein’ or COMP. The defective gene has been identified in Chromosome 19. Type II or Ribbing type, is a less severe ...

Primordial has been defined as belonging to or being characteristic of the earliest stages of development of an organism. Therefore primordial dwarfism is a class of disorders where growth delay occurs at the earliest stages of development. Unlike some of the other forms of dwarfism where newborn infants can have average lengths, children with primordial dwarfism are born smaller than average and have intrauterine growth retardation (IUGR). Unlike some of the other specific conditions, ...

“Pseudo” meaning false implies that this disorder resembles but is distinct from achondroplasia. When Maroteaux and Lamy first described this disorder in 1959, it was thought to be a form of spondyloepiphyseal dysplasia (SED). It has been subsequently shown to differ from SED in its onset and less involvement of the spine. Also, both the epiphyses and metaphyses are affected in this condition. At present, pseudoachondroplasia is recognized as a form of short-limbed dwarfism that manifests ...

The term ‘sphondylos’ means vertebra (Greek) and ‘epiphysis’ refers to the end of long bones that is adjacent to joints. SED principally affects the spine and the ends of long bones.

Extensive illustrated discussion of dwarfism and dysplasias. Conditions described include Thanatophoric dwarfism Achondroplasia Chondrodysplasia punctata Diastrophic dwarfism Dyschondrosteoses Asphyxiating thoracic dystrophy Pyknodysostosis Chondrodysplasia punctata Osteogenesis imperfecta Neurofibromatosis Mucopolysaccharide disorders Ollier disease Multiple hereditary exostoses Proximal focal femoral deficiency Cleidocranial dysostosis Osteopetrosis Osteopoikilosis ...

DIASTROPHIC DYSPLASIA