Spondyloepiphyseal dysplasia Tarda
Classification according to ICD-10 | |
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Q77.7 | Dysplasia spondyloepiphysaria |
ICD-10 online (WHO version 2019) |
The Spondyloepiphyseal dysplasia tarda ( SEDT ) is the most common form of Spondyloepiphysären dysplasia , a rare skeletal dysplasia with changes in the vertebral body and the epiphysis of the long bones .
Synonyms are: Spondyloepiphyseal dysplasia type Maroteaux Lamy; Latin dysplasia spondyloepiphysaria tarda ; SED Tarda
Since the X-linked - recessive inherited form is the most common, the term "Tarda" is often used synonymously for this: SED Tarda, X-linked; Spondyloepiphyseal Dysplasia, Late; Spondyloepiphyseal Dysplasia Tarda, X-Linked; X-linked spondyloepiphyseal dysplasia
The first description was in 1939 by A. Wilmot Jacobsen , the delimitation was in 1957 by the Parisian pediatricians and human geneticists Pierre Maroteaux (* 1928) and Maurice Lamy (1895–1975).
distribution
The frequency is given as 1–9 in 1,000,000, inheritance is heterogeneous (see below), the X-linked form is most common with a frequency of 1 in 150,000 to 1 in 200,000.
Cause and classification
Depending on the inheritance path, the following forms can be distinguished:
- X-linked recessive form , most common, with mutations in the TRAPPC2 gene at the locus Xp22.2-p22-1
- Autosomal dominant form , with myopia and cleft palate , with mutations in the COL2A1 gene at gene location 12q13-q13-2, which codes for the alpha-1 chain of collagen type II.
- Autosomal recessive form
- SED Tarda type Byers , outdated term for the SED Tarda
- SED Tarda type Kohn , (SEDT WITH MENTAL RETARDATION), combination with intellectual disability , probably autosomal recessive,
Clinical manifestations
Clinical criteria are:
- Manifestation between the ages of 6–12 years
- shortened trunk , short neck, disproportionate short stature
- moderately pronounced chest , broad thorax , short arms
- Scoliosis , kyphosis , lumbar hyperlordosis
- Adult height at 125-57 cm
- decreased mobility in the hip joint and premature development of coxarthrosis and gonarthrosis
diagnosis
The clinical suspicion is confirmed by the changes in the X-ray image :
- Small, ovoid deformed vertebral bodies at birth , delayed ossification of the epiphyses and pubic branches
- Before puberty, multiple abnormalities of the epiphyses, platyspondyly with dorsally distended, flattened vertebral bodies, hypoplasia of the Epistropheus tooth, shortened femoral neck and coxa vara
- Broadening and deformation of the epiphyses in normal diaphyses of the long tubular bones
Differential diagnosis
In addition to the other forms of SED, mucopolysaccharidosis and pseudoachondroplasia are to be distinguished
literature
- JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
- K. Katona, L. Fenyöházi, E. Kimmel: Spondyloepiphyseale dysplasia tarda. In: Röntgen sheets; Journal for X-ray technology and medical-scientific photography. Vol. 38, No. 12, December 1985, pp. 397-399, PMID 4089484 .
- S. Bal, H. Kocyigit, Y. Turan, A. Gurgan, KB Bayram, A. Güvenc, Z. Kocaaga, B. Dirim: Spondyloepiphyseal dysplasia tarda: four cases from two families. In: Rheumatology international. Vol. 29, No. 6, April 2009, pp. 699-702, doi: 10.1007 / s00296-008-0746-x , PMID 18932001 .
Individual evidence
- ↑ a b c d Dysplasia, delayed spondyloepiphyseal. 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 .
- ^ Genetic Testing Registry
- ^ A. Wilmot Jacobsen: Hereditary osteochondrodystrophia deformans. A family with twenty members affected in five generations. In: Journal of the American Medical Association , Vol. 113, No. 2, 1939, pp. 121-124. doi: 10.1001 / jama.1939.02800270021006 .
- ↑ M. LAMY, P. MAROTEAUX: La dysplasie spondylo-épiphysaire tardive. In: Archives françaises de pédiatrie. Vol. 14, No. 5, 1957, pp. 506-510, PMID 13445330 .
- ^ Spondyloepiphyseal dysplasia tarda. In: Online Mendelian Inheritance in Man . (English)
- ↑ Spondyloepiphyseal dysplasia tarda, autosomal dominant. In: Online Mendelian Inheritance in Man . (English)
- ↑ Spondyloepiphyseal dysplasia tarda, autosomal recessive. In: Online Mendelian Inheritance in Man . (English)
- ↑ Dysplasia, spondyloepiphyseal, delayed, Kohn type. In: Orphanet (Rare Disease Database).
- ↑ SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION. In: Online Mendelian Inheritance in Man . (English)
- ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X .