Skeletal dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q77 | Osteochondrodysplasia with growth disorders of the long bones and the spine Excludes: mucopolysaccharidosis (E76.0-E76.3) |
| Q78 | Other osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
A skeletal dysplasia is a congenital disorder ( dysplasia ) of bone - and cartilage , osteodysplasia or Osteochondrodysplasia (from ancient Greek χόνδρος chondros , German , cartilage ' ). No individual organs are affected, but the bones and cartilage, a tissue defect.
Classification according to ICD10
Skeletal dysplasias include a variety of diseases. The following list is based on the list of the DIMDI Institute for the ICD-10 :
- Q77.0 Achondrogenesis - hypochondrogenesis
- Q77.1 Thanatophoric dysplasia
- Q77.2 short-rib polydactyly syndromes - asphyxiating thoracic dysplasia (jeune)
- Q77.3 Chondrodysplasia punctata syndromes
- Q77.4 Achondroplasia - hypochondroplasia
- Q77.5 Diastrophic dysplasia
- Q77.6 Chondroectodermal dysplasia - Ellis-van-Creveld syndrome
- Q77.7 Spondyloepiphyseal dysplasia (Dysplasia spondyloepiphysaria) - Oto-spondylo-megaepiphyseal dysplasia - Spondyloepimetaphyseal dysplasia
- Q77.8 Other osteochondrodysplasias with growth disorders of the long bones and the spine - acromicric dysplasia - dyschondrosteosis Léri Weill - spondylometaphyseal dysplasia - platyspondylitic dysplasia type Torrance
- Q77.9 Osteochondrodysplasia with abnormal growth of long bones and spine, unspecified
- Q78.0 Osteogenesis imperfecta - Fragilitas ossium - Osteopsathyrosis
- Q78.1 Polyostotic fibrous dysplasia ( Jaffé-Lichtenstein syndrome ) - McCune-Albright syndrome
- Q78.2 Marble bone disease - Albers-Schönberg syndrome
- Q78.3 Progressive diaphyseal dysplasia - Camurati-Engelmann syndrome
- Q78.4 Enchondromatosis - Maffucci syndrome - Ollier's disease
- Q78.5 Metaphyseal dysplasia - Pyle syndrome - metaphyseal chondrodysplasia Jansen type
- Q78.6 Congenital multiple exostoses - multiple cartilaginous exostoses
- Q78.8 Other specified osteochondrodysplasias - osteopoikilia - mesomelic dysplasia - Stüve-Wiedemann syndrome
- Q78.9 Osteochondrodysplasia, unspecified Chondrodystrophy NOS Osteodystrophy NOS
Lethal forms
Conditions that lead to stillbirth or death in early infancy:
- Achondrogenesis (all forms) - hypochondrogenesis
- Achondroplasia , homozygous form
- Asphyxative thoracic dysplasia Jeune
- Atelosteogenesis
- Boomerang dysplasia
- Chondrodyplasia punctata, rhizomelic type
- Dyssegmental dysplasia
- Fibrochondrogenesis
- Hypophosphatasia , lethal form
- Kampomele dysplasia
- Short rib polydactyly syndrome VI Majewski type
- Metatropic dysplasia , not necessarily fatal
- Osteogenesis imperfecta # OI type II
- Otocephaly
- Raine Syndrome
- Short rib polydactyly syndrome I type Saldino-Noonan
- Cochlea dysplasia
- Spondylocostal dysostosis , autosomal recessive form
- Stüve-Wiedemann syndrome
- Thanatophoric dysplasia
- Short rib polydactyly syndrome II type Verma-Naumoff
Forms manifested early
The following classification is based on the radiological guiding criteria.
- Chondrodysplasia punctata , rhizomelic form
- Chondrodysplasia punctata, type Conradi-Hünermann ( Conradi-Hünermann syndrome )
Mainly epiphyseal forms
- Multiple epiphyseal dysplasia
- Stickler syndrome (arthro-ophthalmopathy)
- Larsen Syndrome
Mostly metaphyseal forms
In these forms, the metaphysis and thus the length growth of certain bones is particularly affected:
- Achondroplasia
- Hypochondroplasia
- Metaphyseal chondrodysplasia ( metaphyseal chondrodysplasia type Jansen )
- Asphyxating thoracic dysplasia
- Ellis van Creveld syndrome
see also metaphyseal dysplasia
Predominantly spondylar forms
The following forms have mainly a change in the eddy on
- Congenital spondyloepiphyseal dysplasia
- Spondyloepiphyseal dysplasia Tarda
- Pseudoachondroplasia
- Kniest dysplasia
- Metatropic dysplasia
- Progressive pseudorheumatoid chondroplasia
- Dyggve-Melchior-Clausen syndrome
- Brachyolmia (affecting the trunk only)
Forms with anarchic tissue development
Forms with reduced bone density
Forms with increased bone density
- Osteopetrosis
- Pycnodysostosis
- Craniometaphyseal Dysplasia
- Diaphyseal dysplasia
- Primary bone dysplasia with increased bone density
- Frontometaphyseal Dysplasia
- Dysosteosclerosis
- Osteoectasia with hyperphosphatasia
Segmentally accentuated forms
Acromelic forms
- Acromicric dysplasia
- Brachydactyly
- Geleophysical short stature
- Tricho-rhino-phalangeal dysplasia
- Weill-Marchesani syndrome
Acromesomele forms
Mesomelic forms
literature
- Ruth Wynne-Davies , Christine M. Hall and Alan Graham Apley : Atlas of skeletal dysplasias . Churchill Livingstone, Edinburgh 1985. ISBN 0-443-03047-2 .
- JW Spranger : Bone Dysplasias . Urban & Fischer 2002, ISBN 3-437-21430-6 .
Individual evidence
- ↑ Lexicon Orthopedics
- ↑ DIMDI ( Memento of the original from June 15, 2017 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme 1995, ISBN 3-13-128101-4 .
- ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 .
- ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, p. 661, ISBN 3-540-61480-X .
