Gnatho-diaphyseal dysplasia
Classification according to ICD-10 | |
---|---|
Q78.0 | Osteogenesis imperfecta |
M85.0 | Fibrous dysplasia |
ICD-10 online (WHO version 2019) |
The Gnatho-diaphyseal dysplasia (GDD from ancient Greek γνάθος gnathos , German , Kinnbacke, pine ' ) is a very rare congenital skeletal dysplasia with the features of increased Knöchenbrüchigkeit as in a imperfecta Osteogenesis , bony changes in the upper and lower jaw like a fibrous dysplasia , Decalcification of bone (osteopenia) and bending of the tibia and fibula .
Synonyms are: Levin Syndrome 2; Osteogenesis imperfecta type Levin; English Gnathodiaphyseal Dysplasia ; OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS; GNATHODIAPHYSEAL SCLEROSIS
The first description was made in 1969 by the Japanese doctor Y. Akasaka and colleagues on the basis of 21 patients.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
root cause
The disease are mutations in ANO5 - gene on locus 11p14.3 based on which the protein Anoctamin-5 coded.
The presence of further genetic defects has been reported.
Clinical manifestations
Clinical criteria are:
- Swelling and infection in the upper or lower jaw ( osteomyelitis )
- Delayed wound healing after tooth extraction
- Gums recede to exposed bone and osteonecrosis
- Circumscribed fibrotic bone remodeling in the jaw with excessive root cement , sometimes already detectable at birth
- Osteopenia with an increased tendency to fracture, but in contrast to osteogenesis imperfecta, fracture healing proceeds normally
- Bending of the bones of the legs and forearm
- In the X-ray image diaphyseal sclerosis of the substantia corticalis
literature
- M. Riminucci, MT Collins, A. Corsi, A. Boyde, MD Murphey, S. Wientroub, SA Kuznetsov, N. Cherman, PG Robey, P. Bianco: Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. In: Journal of Bone and Mineral Research : the official journal of the American Society for Bone and Mineral Research. Vol. 16, No. 9, September 2001, pp. 1710-1718, doi: 10.1359 / jbmr.2001.16.9.1710 , PMID 11547842 .
Individual evidence
- ↑ a b Gnatho-diaphyseal dysplasia. In: Orphanet (Rare Disease Database).
- ↑ Y. Akasaka, T. Nakajima, K. Koyama, K. Furuya, Y. Mitsuka: [Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis]. In: Nihon Seikeigeka Gakkai zasshi. Vol. 43, No. 5, May 1969, pp. 381-394, PMID 5816667 .
- ^ Gnathodiaphyseal dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ↑ C. Marconi, P. Brunamonti Binello, G. Badiali, E. Caci, R. Cusano, J. Garibaldi, T. Pippucci, A. Merlini, C. Marchetti, KJ Rhoden, LJ Galietta, F. Lalatta, P. Balbi, M. Seri: A novel missense mutation in ANO5 / TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. In: European Journal of Human Genetics : EJHG. Vol. 21, No. 6, June 2013, pp. 613–619, doi: 10.1038 / ejhg.2012.224 , PMID 23047743 , PMC 3658193 (free full text).
- ↑ S. Tsutsumi, N. Kamata, TJ Vokes, Y. Maruoka, K. Nakakuki, S. Enomoto, K. Omura, T. Amagasa, M. Nagayama, F. Saito-Ohara, J. Inazawa, M. Moritani, T. Yamaoka, H. Inoue, M. Itakura: The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). In: American Journal of Human Genetics . Vol. 74, No. 6, June 2004, pp. 1255-1261, doi: 10.1086 / 421527 , PMID 15124103 , PMC 1182089 (free full text).
- ^ Right Diagnosis
- ^ Genetics Home Reference