CODAS syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The CODAS syndrome , acronym ( English ) for C erebral , O cular , D ental , A uricular and S kelet anomaly , is a very rare congenital disease with the eponymous principal features.
Synonym : cerebro-oculo-dento-auriculo-skeletal syndrome
The name was proposed in 1991 by the authors of the first description by the Canadian pediatricians Souheil M. Shebib, Martin H. Reed, E. Paul Shuckett and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far 3 affected children have been reported. Inheritance is autosomal - recessive .
root cause
The disease are mutations in LONP1 - gene on chromosome 19 locus p13.3 based on which the mitochondrial encoded Lon peptidase first
Clinical manifestations
Clinical criteria are:
- Manifestation in newborns to infancy
- psychomotor retardation
- cataract
- Tooth abnormalities with abnormal shape, enamel extensions on the tooth edges, later tooth eruption
- Malformation of auricle, malformed (highly folded and 'crumpled') ears, sensorineural hearing loss
- Short stature
- epiphyseal dysplasia
- Facial dysmorphism with ptosis , epicanthus and dimples on the bridge of the nose
diagnosis
The x-ray shows: delayed ossification and skeletal maturity , anomalies in the spine and pelvis .
Differential diagnosis
The following are to be distinguished:
literature
- T. Inui, M. Anzai, Y. Takezawa, W. Endo, Y. Kakisaka, A. Kikuchi, A. Onuma, S. Kure, I. Nishino, C. Ohba, H. Saitsu, N. Matsumoto, K. Haginoya: A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. In: Journal of human genetics. Volume 62, number 6, June 2017, pp. 653-655, doi: 10.1038 / jhg.2017.11 , PMID 28148925 .
- E. Dikoglu, A. Alfaiz, M. Gorna, D. Bertola, JH Chae, TJ Cho, M. Derbent, Y. Alanay, T. Guran, OH Kim, JC Llerenar, G. Yamamoto, G. Superti-Furga, A. Reymond, I. Xenarios, B. Stevenson, B. Campos-Xavier, L. Bonafé, A. Superti-Furga, S. Unger: Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. In: American journal of medical genetics. Part A. Volume 167, number 7, July 2015, pp. 1501–1509, doi: 10.1002 / ajmg.a.37029 , PMID 25808063 .
Individual evidence
- ↑ a b c d e CODAS syndrome. In: Orphanet (Rare Disease Database).
- ↑ SM Shebib, MH Reed, EP Shuckett, HG Cross, JB Perry, AE Chudley: Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome – a case report. In: American journal of medical genetics. Volume 40, Number 1, July 1991, pp. 88-93, doi: 10.1002 / ajmg.1320400118 , PMID 1887855 .
- ↑ CODAS syndrome. In: Online Mendelian Inheritance in Man . (English)
