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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...

Synonyms and related keywords: classic diastrophic dysplasia, mild diastrophic dysplasia, skeletal dysplasia, diastrophic variants, cherub dwarf, diastrophic dwarfism, dwarfing, diastrophic nanism syndrome, achondroplasia with clubfeet, diastrophic variant, arthrogryposis multiplex congenita, DTDST gene AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Indications...

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: ...

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...

Index site with links to Dwarfism resources (includes mythology)

Dwarfism, Madelung Deformity. NORD Database
Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna...

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...

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...

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...

“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...

Background: Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age. If short stature is proportional, the condition may...