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Other namesOsteochondrodysplasia_header_cell_0_1_0 Skeletal dysplasiaOsteochondrodysplasia_cell_0_1_1
SpecialtyOsteochondrodysplasia_header_cell_0_2_0 OrthopedicOsteochondrodysplasia_cell_0_2_1

Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasia_sentence_0

Osteochondrodysplasias are rare diseases. Osteochondrodysplasia_sentence_1

About 1 in 5,000 babies are born with some type of skeletal dysplasia. Osteochondrodysplasia_sentence_2

Nonetheless, if taken collectively genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. Osteochondrodysplasia_sentence_3

Osteochondrodysplasias can result in marked functional limitation and even mortality. Osteochondrodysplasia_sentence_4

Osteochondrodysplasias subtypes can overlap in clinical aspects. Osteochondrodysplasia_sentence_5

Therefore, plain radiography is absolutely necessary to establish an accurate diagnosis. Osteochondrodysplasia_sentence_6

Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. Osteochondrodysplasia_sentence_7

Early diagnosis, and timely management of skeletal dysplasia are important to combat functional deterioration. Osteochondrodysplasia_sentence_8

Types Osteochondrodysplasia_section_0

Achondroplasia Osteochondrodysplasia_section_1

Main article: Achondroplasia Osteochondrodysplasia_sentence_9

Achondroplasia is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. Osteochondrodysplasia_sentence_10

It is also the most common type of non-lethal osteochondrodysplasia or skeletal dysplasia. Osteochondrodysplasia_sentence_11

The prevalence is approximately 1 in 25,000 births. Osteochondrodysplasia_sentence_12

Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 inches) for males and 123 cm (4 feet, 0 inches) for females. Osteochondrodysplasia_sentence_13

In achondroplasia the dwarfism is readily apparent at birth. Osteochondrodysplasia_sentence_14

likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth. Osteochondrodysplasia_sentence_15

The previous clinical findings differentiate between achondroplasia and pseudoachondroplasia in which dwarfism is not recognizable at birth and craniofacial abnormalities are not considered a disease feature. Osteochondrodysplasia_sentence_16

Plain radiography plays an additional and important role in the differential diagnosis of achondroplasia. Osteochondrodysplasia_sentence_17

Pseudoachondroplasia Osteochondrodysplasia_section_2

Pseudoachondroplasia is an osteochondrodysplasia made distinctive by disproportionate short stature, hip and knee deformities, brachydactly (short fingers) and ligamentous laxity. Osteochondrodysplasia_sentence_18

It affects at least 1 in 20,000 individuals. Osteochondrodysplasia_sentence_19

Pseudoachondroplasia is inherited in an autosomal dominant manner and is caused solely by mutations in the cartilage oligomeric matrix protein COMP gene. Osteochondrodysplasia_sentence_20

It’s distinguished by a moderate to severe form of disproportionate short-limb short stature. Osteochondrodysplasia_sentence_21

The limb shortening is fundamentally confined to the proximal limb segments i.e. Femurs and humeri. Osteochondrodysplasia_sentence_22

A known presenting feature is a waddling gait, noticed at the onset of walking. Osteochondrodysplasia_sentence_23

A prompt diagnosis of a skeletal dysplasia in general and Pseudoachondroplasia in specific is still based upon a comprehensive clinical and radiographic correlation. Osteochondrodysplasia_sentence_24

A detailed radiographic examination of the axial and appendicular skeleton is invaluable for the differential diagnosis of Pseudoachondroplasia. Osteochondrodysplasia_sentence_25

Coxa vara (reduced neck shaft angle), broad femoral necks, short femurs and humeri, and bullet-shaped vertebrae are noticeable radiographic features. Osteochondrodysplasia_sentence_26

Additionally, the presence of metaphyseal broadening, cupping and dense line of ossification about the knee can simulate rachitic changes. Osteochondrodysplasia_sentence_27

These radiographic features are collectively known as rachitic-like changes. Osteochondrodysplasia_sentence_28

The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia. Osteochondrodysplasia_sentence_29

Osteogenesis Imperfecta Osteochondrodysplasia_section_3

COL1A1/2-related osteogenesis Imperfecta is inherited in an autosomal dominant manner. Osteochondrodysplasia_sentence_30

The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis Imperfecta in the vast majority of perinatally lethal osteogenesis Imperfecta, and progressively deforming osteogenesis Imperfecta. Osteochondrodysplasia_sentence_31

In classic non-deforming osteogenesis Imperfecta with blue sclerae or common variable osteogenesis Imperfecta with normal sclerae, nearly 60% of cases are de novo. Osteochondrodysplasia_sentence_32

COL1A1/2-related osteogenesis Imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss. Osteochondrodysplasia_sentence_33

The clinical features of COL1A1/2-related osteogenesis Imperfecta can be highly variable ranging from severe and lethal perinatal fractures to individuals with minimal tendency to repeated fractures and skeletal deformities and with a normal stature and life span. Osteochondrodysplasia_sentence_34

In between the clinical spectrum may include individuals with various degrees of disabling skeletal deformities and short stature. Osteochondrodysplasia_sentence_35

The radiographic findings of osteogenesis Imperfecta include; long bone deformations such as bowing of the tibias and femurs, pencil-like deformity and tapering of bones, cortical thinning and rarefaction, pathologic fractures at various degrees of healing, bone shortening and vertebral wedging. Osteochondrodysplasia_sentence_36

Accordingly, COL1A1/2-related osteogenesis Imperfecta has been classified into four sub-types (I, II, III, and IV) built upon the diversity of the radioclinical features. Osteochondrodysplasia_sentence_37


  • OI type I: classic non-deforming OI with blue scleraeOsteochondrodysplasia_item_0_0
  • OI type II: perinatally lethal OIOsteochondrodysplasia_item_0_1
  • OI type III: progressively deforming OIOsteochondrodysplasia_item_0_2
  • OI type IV: common variable OI with normal scleraeOsteochondrodysplasia_item_0_3

Muocopolysachariodosis Osteochondrodysplasia_section_4

Mucopolysaccharidoses (MPS) constitute a commonly seen group of osteochondrodysplasias. Osteochondrodysplasia_sentence_38

Mucopolysaccharidosis can cause a wide spectrum of clinical and radiologic manifestations ranging from mild skeletal and systemic involvement to severe life-threatening manifestations. Osteochondrodysplasia_sentence_39

It is caused by a contiguous gene duplication or deletion syndrome in which multiple genes are involved. Osteochondrodysplasia_sentence_40

All forms of MPS are inherited in an autosomal recessive pattern, except fir of MPS II; Hunter syndrome which is X-linked. Osteochondrodysplasia_sentence_41

They are caused by an abnormal function of the lysosomal enzymes, which blocks degradation of mucopolysaccharides and leads to accumulation of harmful byproducts, namely, heparan sulfate, dermatan sulfate, and keratan sulfate. Osteochondrodysplasia_sentence_42

The resulting cellular malfunction can lead to a diverse array of skeletal and visceral manifestations. Osteochondrodysplasia_sentence_43

MPS have been subcategorized according to the type of enzyme inadequacy and glycoprotein accumulated. Osteochondrodysplasia_sentence_44

Cleidocranial dysostosis Osteochondrodysplasia_section_5

Main article: Cleidocranial dysostosis Osteochondrodysplasia_sentence_45

Cleidocranial dysostosis is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have. Osteochondrodysplasia_sentence_46

Common features include: Osteochondrodysplasia_sentence_47


  • Partly or completely missing collarbones.Osteochondrodysplasia_item_1_4
  • A soft spot or larger soft area in the top of the head where the fontanelle failed to close.Osteochondrodysplasia_item_1_5
  • Bones and joints are underdeveloped.Osteochondrodysplasia_item_1_6
  • The permanent teeth include supernumerary teeth.Osteochondrodysplasia_item_1_7
  • Permanent teeth not eruptingOsteochondrodysplasia_item_1_8
  • Bossing (bulging) of the forehead.Osteochondrodysplasia_item_1_9
  • HypertelorismOsteochondrodysplasia_item_1_10

Fibrous dysplasia Osteochondrodysplasia_section_6

Main article: Fibrous dysplasia Osteochondrodysplasia_sentence_48

Fibrous dysplasia causes bone thinning and growths or lesions in one or more bones of the human body. Osteochondrodysplasia_sentence_49

These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Osteochondrodysplasia_sentence_50

Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. Osteochondrodysplasia_sentence_51

The skull is often, but not necessarily, affected, and any other bone(s) can be involved. Osteochondrodysplasia_sentence_52

Langer-Giedion syndrome Osteochondrodysplasia_section_7

Main article: Langer-Giedion syndrome Osteochondrodysplasia_sentence_53

Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. Osteochondrodysplasia_sentence_54

Diagnosis is usually made at birth or in early childhood.The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. Osteochondrodysplasia_sentence_55

Maffucci syndrome Osteochondrodysplasia_section_8

Main article: Maffucci syndrome Osteochondrodysplasia_sentence_56

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Osteochondrodysplasia_sentence_57

Also lymphangiomas may be apparent. Osteochondrodysplasia_sentence_58

Patients are normal at birth and the syndrome manifests during childhood and puberty. Osteochondrodysplasia_sentence_59

The enchondromas affect the extremities and their distribution is asymmetrical. Osteochondrodysplasia_sentence_60

Osteosclerosis Osteochondrodysplasia_section_9

Main article: Osteosclerosis Osteochondrodysplasia_sentence_61

Osteosclerosis, an elevation in bone density, is normally detected on an X-ray as an area of whiteness, and is where the bone density has significantly increased. Osteochondrodysplasia_sentence_62

Localized osteosclerosis can be caused by injuries that compress the bone, by osteoarthritis, and osteoma. Osteochondrodysplasia_sentence_63

Other Osteochondrodysplasia_section_10


Diagnosis Osteochondrodysplasia_section_11

Treatment Osteochondrodysplasia_section_12

Credits to the contents of this page go to the authors of the corresponding Wikipedia page: en.wikipedia.org/wiki/Osteochondrodysplasia.