Mesomelic dysplasia Savarirayan type
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The mesomelic dysplasia type Savarirayan is a very rare congenital disease and belongs to the mesomelic dysplasias . Main features are a three-angled tibia and a lack of fibula .
The name refers to the author of the first description from the year 2000 by the human geneticist Ravi Savarirayan and colleagues.
distribution
The frequency and mode of inheritance are not known; 2 sporadic cases have been described so far.
root cause
The disease is based on mutations in the LAF4 gene at location 2q11.2.
Clinical manifestations
Diagnostic criteria are:
- Fibular aplasia and hypoplasia with a triangular deformed tibia .
- Moderate mesomelia of the upper limbs with proximal deformity of the ulna
- Other trunk skeletal changes such as pelvic anomalies and hypoplasia of the shoulder joints
literature
- M. Nakamura, Y. Matsuda, M. Higo, G. Nishimura: A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types. In: American journal of medical genetics. Part A. Vol. 143A, No. 17, September 2007, ISSN 1552-4825 , pp. 2079-2081, doi : 10.1002 / ajmg.a.31888 , PMID 17702012 .
- E. Steichen-Gersdorf, I. Gassner, A. Superti-Furga, R. Ullmann, S. Stricker, E. Klopocki, S. Mundlos: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. In: Clinical genetics. Vol. 74, No. 6, December 2008, ISSN 1399-0004 , pp. 560-565, doi : 10.1111 / j.1399-0004.2008.01050.x , PMID 18616733 .
Individual evidence
- ↑ MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE. In: Online Mendelian Inheritance in Man . (English)
- ^ R. Savarirayan, V. Cormier-Daire, CJ Curry, MB Nashelsky, V. Rappaport, DL Rimoin, RS Lachman: New mesomelic dysplasia with absent fibulae and triangular tibiae. In: American journal of medical genetics. Vol. 94, No. 1, September 2000, ISSN 0148-7299 , pp. 59-63, PMID 10982484 .
- ↑ a b Mesomelic dysplasia type Savarirayan. In: Orphanet (Rare Disease Database).
- ^ E. Steichen-Gersdorf, I. Gassner, A. Superti-Furga, R. Ullmann, S. Stricker, E. Klopocki, S. Mundlos: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. In: Clinical genetics. Vol. 74, No. 6, December 2008, ISSN 1399-0004 , pp. 560-565, doi : 10.1111 / j.1399-0004.2008.01050.x , PMID 18616733 .
