Chondrodysplasia
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) |
The chondrodysplasia is a group of rare congenital skeletal is principally involving the cartilage (from ancient Greek χόνδρος chondros , German , cartilage ' ).
The term “chondrodysplasia” is often used synonymously for achondroplasia , a relatively common congenital skeletal dysplasia .
However, other diseases can be found under this keyword:
- the acromesomelic dysplasia type Grebe , (synonym: chondrodysplasia type Grebe )
- the atelosteogenesis type I , (synonym: giant cell chondrodysplasia )
- the Chondrodysplasia punctata group
- the FGFR3-dependent chondrodysplasia group
- Achondroplasia
- SADDAN dysplasia , (Synonym: achondroplasia, severe - developmental delay - acanthosis nigricans )
- Hypochondroplasia
- CATSHL syndrome , (synonym: camptodactyly - tall stature - scoliosis - hearing loss )
- Thanatophoric dysplasia
- the Lethal Chondrodysplasia group consisting of
- Lethal chondrodysplasia Moerman type , (Synonym: Moerman-Vandenberghe-Fryns syndrome )
- Lethal chondrodysplasia type Seller
- Lethal chondrodysplasia type Holmgren , (Synonym: autosomal recessive lethal chondrodysplasia with rounded femoral inferior epiphyses )
- Lethal chondrodysplasia, recessive form , (synonym: Maroteaux-Stanescu-Cousin syndrome )
- Lethal chondrodysplasia type Blomstrand , (Synonym: Blomstrand lethal chondrodysplasia )
- the metaphyseal dysplasia group
- the snail basin dysplasia , (synonym: chondrodysplasia with a snail-like basin )
- the X chromosomal dominant chondrodysplasia type Chassaing-Lacombe
- the Parastremmatische dysplasia
In the context of syndromes
- Nivelon-Nivelon-Mabille syndrome , (synonym: chondrodysplasia-pseudohermaphrodism syndrome; chondrodysplasia - disorder of sexual development (DSD) )
- Cantu syndrome , (synonym: hypertrichosis with osteochondrodysplasia of the Cantu type )
- Weissenbacher-Zweymüller phenotype , (synonym: Pierre Robin sequence - fetal chondrodysplasia )
- Larsen syndrome, autosomal recessive , (synonym: chondrodysplasia with congenital joint dislocations type CHST3)
- gPAPP deficiency , (synonym: chondrodysplasia with joint contractures, gPAPP type )
- Chondrodysplasia, metaphyseal - retinitis pigmentosa
- Odonto Chondrodysplasia , Synonyms: Goldblatt Chondrodysplasia; Chondrodysplasia - Dentinogenesis imperfecta - joint slack
- Leukoencephalopathy - metaphyseal chondrodysplasia
- Spondyloenchondrodysplasia (synonyms: Roifman-Melamed-Syndrome, outdated term spondyloenchondrodysplasia with immune deficiency)
Likewise be fatal, the Fibrochondrogenesie
Individual evidence
- ↑ Dysplasia, acromesomele, Grebe type. In: Orphanet (Rare Disease Database).
- ↑ FGFR3-dependent chondrodysplasia. In: Orphanet (Rare Disease Database).
- ↑ Severe achondroplasia - developmental delay - acanthosis nigricans. In: Orphanet (Rare Disease Database).
- ↑ Camptodactyly - tall stature - scoliosis - hearing loss. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, lethal. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, lethal, Moerman type. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, lethal, seller type. In: Orphanet (Rare Disease Database).
- ^ Bone dysplasia, lethal, Holmgren type. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, lethal, recessive. In: Orphanet (Rare Disease Database).
- ↑ Blomstrand type chondrodysplasia. In: Orphanet (Rare Disease Database).
- ↑ Cochlea Dysplasia. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, X-linked dominant, Chassaing-Lacombe type. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia - intersexuality. In: Orphanet (Rare Disease Database).
- ^ Hypertrichosis with osteochondrodysplasia of the Cantu type. In: Orphanet (Rare Disease Database).
- ↑ Weissbacher-Zweymüller syndrome. In: Orphanet (Rare Disease Database).
- ^ CHST3-associated skeletal dysplasia. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia with joint contractures, gPAPP type. In: Orphanet (Rare Disease Database).
- ^ Chondrodysplasia, metaphyseal retinitis pigmentosa. In: Orphanet (Rare Disease Database).
- ↑ Goldblatt Syndrome. In: Orphanet (Rare Disease Database).
- ↑ Leukoencephalopathy - metaphyseal chondrodysplasia. In: Orphanet (Rare Disease Database).
- ↑ Spondyloenchondrodysplasia. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondylometaphyseal - combined immunodeficiency. In: Orphanet (Rare Disease Database).