Strudwick type spondyloepimetaphyseal dysplasia

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The Spondyloepimetaphysäre dysplasia Strudwick ( SEMD Strudwick type ) is the most common form of Spondyloepimetaphysären dysplasia , a rare, the chondrodysplasias counting skeletal dysplasia with changes in the vertebral body , the metaphysis and epiphysis of the long bones . The main characteristic is the disproportionate dwarfism .

Synonyms are: SEMDSTWK; SMED, Strudwick type; SMED, type I; Strudwick Syndrome; English Dappled Metaphysis Syndrome; Spondylometaphyseal dysplasia; SMD; SEMDC

The name refers to the first patient in whom this disease was described in 1969 by doctors J. Lamont Murdoch and Bryan A. Walker .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

causes

The disease are mutations in COL2A1 - gene on locus 12q13.11-q13.2 basis. This leads to a substitution of another amino acid for glycine, which can lead to a deformation of the conformation of the collagen molecules.

Clinical manifestations

Main features are:

It is associated with cleft palate , severe myopia and retinal detachment .

diagnosis

The diagnosis is based on changes in the X-ray image ; confirmation can be made genetically, since the mutation is known.

literature

  • R. Amirfeyz, A. Taylor, SF Smithson, MF Gargan: Orthopedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. In: Journal of pediatric orthopedics. Part B. Vol. 15, No. 1, January 2006, pp. 41-44, PMID 16280719 .
  • GE Tiller, PA Polumbo, MA Weis, R. Bogaert, RS Lachman, DH Cohn, DL Rimoin, DR Eyre: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. In: Nature Genetics . Vol. 11, No. 1, September 1995, pp. 87-89, doi: 10.1038 / ng0995-87 , PMID 7550321 .
  • SM Shebib, AE Chudley, MH Reed: Spondylometepiphyseal dysplasia congenita, Strudwick type. In: Pediatric radiology. Vol. 21, No. 4, 1991, pp. 298-300, PMID 1870932 .

Individual evidence

  1. ↑ a b c Dysplasia, spondyloepimetaphyseal, Strudwick type. In: Orphanet (Rare Disease Database).
  2. ↑ a b c SMED Strudwick type.  In: Online Mendelian Inheritance in Man . (English).
  3. ↑ JL Murdoch, BA Walker: A 'new' form of spondylometaphyseal dysplasia. In: Birth Defects Original Article . Ser. V (4), 1969, pp. 368-370.

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