My Orthopaedic Surgeon

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.

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 Relevant Anatomy And Contraindications Workup Treatment Complications Outcome And Prognosis Future And Controversies Pictures Bibliography Author: Shital Parikh, MBBS, MS, Consulting Staff, Department of Orthopedics, Buchanan General Hospital Coauthor(s): Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India; Twee Do, MD, Assistant Professor, Department of Pediatric Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Neuromuscular Orthopedic Services, Cincinnati Children's Hospital Medical Center
Skeletal dysplasias are a heterogenous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as height more than 2 standard deviations below the mean for the population at a given age. Lamy and Maroteaux first delineated this syndrome in 1960 and coined the term diastrophic dwarfism. The term diastrophic is derived from a Greek root meaning distorted; it is a geological term used to describe the bending and twisting of the earth's crust during geomorphogenesis. This terminology seems appropriate for this disorder, in which the skeleton appears to be twisted. In 1977, at the Second International Conference for Nomenclature for Constitutional Diseases of Bone, the name was changed from diastrophic dwarfism to diastrophic dysplasia.

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 Exostoses Multiple Enchodromatosis (Ollier's Disease) Multiple Epiphyseal Dysplasia Proximal Femoral Focal Deficiency Osteogenesis Imperfecta Spondyloepiphyseal Dysplasia Congenita: - Short Trunk Dwarfism: - Kniest syndrome - Metatrophic Dysplasia - Spondyloepiphyseal dysplasias - Proportionate Dwarism: - diastrophic dysplasia, - cleidocranial dysplasia dysplasia - mucopolysaccaridoses; - Disproportionate dwarfism: (short limb dysplasia) - Achondroplasia - metaphyseal chondrodysplasias; -------------------------------------------------------------------------------- - Misc: - Rhizomelic Dwarfism: Arms or Thighs are Short relative to the entire limb - Mesomelic Dwarfism: Disproportionately Short Forearms or Legs - Acromelic Dwarfism: Disproportionately short hands or feet

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 dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits. Full text available A Enderle J R Soc Med. 1998 May; 91(5): 273–278.

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 (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

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 form and abnormal protein is the alpha-2 polypeptide chain of collagen IX (genetic defect in chromosome 1). Type IX collagen is found on the surface of type II collagen and is necessary for the integrity of articular cartilage. There is a defect in the formation of epiphyseal ossification centers. The bones most commonly affected are the humeral (arm bone) and femoral (thigh bone) heads. Bones of the pelvis, spinal column and skull are normal

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, primordial dwarfism is not a specific diagnosis. It is in fact a class of disorders to which at least 5 different conditions are currently grouped: Russell-Silver syndrome, Seckel syndrome, Meier-Gorlin syndrome, and Majewski osteodysplastic primordial dwarfism (MOPD) Types I/III and Type II. The Russell-Silver, Seckel and Meier-Gorlin syndromes are relatively well defined entities and we will not discuss them here. We will limit our discuss to MOPD Type II and most of the information below can be examined in more detail in Hall et. al (1).

“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 itself over time and associated with premature degenerative arthritis.

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 be due to endocrine or metabolic disorders or chromosomal or nonskeletal dysplasia genetic defects. In general, patients with disproportionately short stature have skeletal dysplasia (osteochondrodysplasia). Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center