Spondyloenchondrodysplasia
| Classification according to ICD-10 | |
|---|---|
| Q77.7 | Osteochondrodysplasia with growth disorders of the long bones and the spine |
| ICD-10 online (WHO version 2019) | |
The Spondyloenchondrodysplasie (SPENCD) is a very rare congenital skeletal dysplasia with abnormalities of the vertebrae and enchondromas .
Synonyms are: Spondylometaphyseal dysplasia with enchondromatous changes; Dysplasia, spondylometaphyseal - combined immunodeficiency; Roifman Melamed Syndrome
The first description is from 1976 by the Israeli radiologist Samuel Schorr and colleagues.
The (outdated) name refers to a work from 2003 by the Canadian doctors Chaim M. Roifman and I Melamed.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance in most cases is autosomal - recessive . There was also an autosomal dominant reported inheritance.
root cause
The disease are mutations in ACP5 - gene on chromosome 19 locus P13.2 based.
Clinical manifestations
Clinical criteria are:
- Short stature , especially of the limbs
- Platyspondyly , often dorsally , also with structural irregularities
- Shortened tubular bones , widened metaphyses , lightening also in the diaphysis and epiphysis as well as the iliac crest , shoulder blade and sternum
- often short iliac bone with a horizontal pan roof
- rare sclerosis of the skull base
- Enchondromas
In addition to neurological symptoms , idiopathic thrombocytopenic purpura , or lupus erythematosus come.
diagnosis
The diagnosis is based on clinical and radiological findings.
literature
- Y. Bilginer, A. Düzova, R. Topaloğlu, ED Batu, K. Boduroğlu, .. Güçer, I. Bodur, Y. Al: Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature. In: Lupus. Volume 25, Number 7, June 2016, pp. 760-765, doi: 10.1177 / 0961203316629000 , PMID 26854080 (Review).
- Renella, R., Schaefer, E., LeMerrer, M., Alanay, Y., Kandemir, N., Eich, G., Costa, T., Ballhausen, D., Boltshauser, E., Bonafe, L., Giedion, A., Unger, S., Superti-Furga, A. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiologic delineation of a pleiotropic disorder. At the. J. Med. Genet. 140A: 541-550, 2006. [PubMed: 16470600, related citations] [Full Text]
- Menger, H., Kruse, K., Spranger, J. Spondyloenchondrodysplasia. J. Med. Genet. 26: 93-99, 1989. [PubMed: 2918547, related citations] [Full Text]
Individual evidence
- ↑ 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 .
- ↑ a b c Spondyloenchondrodysplasia. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, spondylometaphyseal - combined immunodeficiency. In: Orphanet (Rare Disease Database).
- ^ S. Schorr, C. Legum, M. Ochshorn: Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers. In: Radiology. Volume 118, Number 1, January 1976, pp. 133-139, doi: 10.1148 / 118.1.133 , PMID 1244645 .
- ↑ CM Roifman, I. Melamed: A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. In: Clinical genetics. Volume 63, Number 6, June 2003, pp. 522-529, PMID 12786759 .
- ↑ R. Bhargava, NJ Leonard, AK Chan, J. Spranger: Autosomal dominant inheritance of spondyloenchondrodysplasia. In: American journal of medical genetics. Part A. Volume 135, Number 3, June 2005, pp. 282-288, doi: 10.1002 / ajmg.a.30732 , PMID 15887273 (review).
- ↑ Spondyloenchondrodysplasia with immune dysregulation. In: Online Mendelian Inheritance in Man . (English)
