Saldino-Mainzer Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.5 | Other congenital malformation syndromes with other skeletal changes |
| ICD-10 online (WHO version 2019) | |
The Saldino-Mainzer syndrome is a very rare congenital disease with the main features of renal dysplasia , retinitis pigmentosa , cerebellar ataxia and skeletal dysplasia .
Synonyms are: Mainzer-Saldino syndrome; MZSDS; Conorenal syndrome; English Short-RIB Thoracic Dysplasia 9 With Or Without Polydactyly; SRTD9
It was first described in 1970 by the US radiologist Frank Mainzer and the US pediatric radiologist Ronald M. Saldino .
distribution
The frequency is given to be less than 1 in 1,000,000, so far about 20 patients have been reported. Inheritance is autosomal - recessive .
root cause
The disease are mutations in IFT140 - gene on locus 16p13.3 or IFT172 gene at 2p23.3 based.
Clinical manifestations
Clinical criteria are:
- Cerebellar ataxia
- Juvenile nephronophthisis rapidly leading to renal insufficiency
- Metaphyseal chondrodysplasia with changes in the femoral neck , short terminal phalanges of the fingers , cone epiphyses of the metacarpals and metatarsal bones
- narrow thorax , broad ribs , clumsy vertebrae , lordosis
- Retinal pigment degeneration , nystagmus , strabismus , optic atrophy
- juvenile liver fibrosis
- Inner ear hearing loss
- Facial abnormalities with a small face and high palate
- slightly to moderately short stature
literature
- C. Mortellaro, L. Bello, A. Pucci, AG Lucchina, M. Migliario: Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. In: The Journal of craniofacial surgery. Volume 21, No. 5, September 2010, pp. 1554-1556, doi: 10.1097 / SCS.0b013e3181ec69bb , PMID 20856047 .
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 Saldino-Mainzer syndrome. In: Orphanet (Rare Disease Database).
- ^ F. Mainzer, RM Saldino, MB Ozonoff, H. Minagi: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. In: The American journal of medicine. Vol. 49, No. 4, October 1970, pp. 556-562, PMID 4991086 .
- ↑ Who named it
- ^ Genetics Home Reference
- ^ Short-rib thoracic dysplasia 9 with or without polydactyly. In: Online Mendelian Inheritance in Man . (English)
- ^ Short-rib thoracic dysplasia 10 with or without polydactyly. In: Online Mendelian Inheritance in Man . (English)
