Spondyloepiphyseal dysplasia
Classification according to ICD-10 | |
---|---|
Q77.7 | Dysplasia spondyloepiphysaria |
ICD-10 online (WHO version 2019) |
The Spondyloepiphyseal dysplasia ( SED ) includes a group of rare or very rare to the chondrodysplasias counting skeletal dysplasias with changes in the vertebral body and the epiphysis of the long bones . The main characteristic is the disproportionate short stature .
Classification
Main forms
The main forms are the
- Congenital form ( congenital spondyloepiphyseal dysplasia ; SEDC ; Spranger-Wiedemann type; SED congenital type )
- Tarda form ( Spondyloepiphyseal Dysplasia Tarda , SEDT )
this also includes the SED Tarda type Byers and the SED Tarda type Kohn
Other forms
Other forms are:
- SED with progressive arthropathy
- SED type Cantu
- SED type Kimberley
- SED type Maroteaux (pseudo-Morquio syndrome type 2)
- SED type Pakistani
- SED type Reardon
- Osteoarthritis, onset early, with mild spondyloepiphyseal dysplasia due to COL2A1 gene mutation
Syndromal forms
- Bone dysplasia, immuno-osseous, Schimke type (spondyloepiphyseal dysplasia - nephrotic syndrome)
- Roifman syndrome ( english Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome )
- SED type MacDermot (spondyloepiphyseal dysplasia - myopia - sensorineural hearing loss)
- SED type Nishimura (spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual disability)
Outdated
Obsolete name:
- SED type Omani postponed after CHST3-associated skeletal dysplasia (chondrodysplasia with congenital joint dislocations type CHST3; Larsen syndrome, autosomal recessive)
diagnosis
The clinical suspicion due to the disproportionate short stature with a short trunk and deformations of the extremities near the joints is confirmed by the changes in the X-ray image :
- Deformed vertebral bodies of reduced height
- Broadening and deformation of the epiphyses in normal diaphyses of the long tubular bones
literature
- JW Spranger : Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
Individual evidence
- ↑ Spondyloepiphyseal and spondyloepimetaphyseal dysplasia. In: Orphanet (Rare Disease Database).
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Dysplasia, spondyloepiphyseal, congenital type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, delayed spondyloepiphyseal. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, delayed, Kohn type. In: Orphanet (Rare Disease Database).
- ↑ Arthropathy, progressive pseudorheumatoid, childhood. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Cantu type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Kimberley type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Maroteaux type. In: Orphanet (Rare Disease Database).
- ^ Dysplasia, spondyloepiphyseal, Pakistani type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Reardon type. In: Orphanet (Rare Disease Database).
- ↑ Osteoarthritis, onset early, with mild spondyloepiphyseal dysplasia due to COL2A1 gene mutation. In: Orphanet (Rare Disease Database).
- ↑ Bone dysplasia, immuno-osseous, Schimke type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, MacDermot type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Nishimura type. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondyloepiphyseal, Omani type. In: Orphanet (Rare Disease Database).
- ^ Orphanet CHST3-associated skeletal dysplasia