Saldino-Mainzer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA
SRTD9
MZSDS
conorenal syndrome
Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia
Short-rib thoracic dysplasia 9 with or without polydactyly
Number of Symptoms 35
OrphanetNr: 140969
OMIM Id: 266920
ICD-10: Q87.5
UMLs: C1849437
MeSH: C535463
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Acromelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
Syndromic retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
 (HPO:0000110) Renal dysplasia 44 / 7739
3
 (HPO:0000107) Renal cyst 126 / 7739
4
 (HPO:0000090) Nephronophthisis 42 / 7739
5
 (HPO:0000112) Nephropathy 92 / 7739
6
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
7
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
8
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
9
 (HPO:0001363) Craniosynostosis rare [HPO:skoehler] 132 / 7739
10
 (HPO:0000639) Nystagmus 555 / 7739
11
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
12
 (HPO:0000572) Visual loss 272 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
15
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
16
 (HPO:0010306) Short thorax 10 / 7739
17
 (HPO:0000773) Short ribs rare [HPO:skoehler] 70 / 7739
18
 (HPO:0100864) Short femoral neck 36 / 7739
19
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
20
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
21
 (HPO:0000888) Horizontal ribs 12 / 7739
22
 (HPO:0009803) Short phalanx of finger 79 / 7739
23
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
24
 (HPO:0002611) Cholestatic liver disease 19 / 7739
25
 (HPO:0001395) Hepatic fibrosis 67 / 7739
26
 (HPO:0002240) Hepatomegaly variable [HPO:skoehler] 467 / 7739
27
 (HPO:0001396) Cholestasis variable [HPO:skoehler] 136 / 7739
28
 (HPO:0004322) Short stature 1232 / 7739
29
 (HPO:0001903) Anemia 289 / 7739
30
 (OMIM) Flattened femoral epiphyses 2 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (OMIM) Small thoracic cavity (in some patients) 1 / 7739
33
 (OMIM) Metaphyseal defects (in some patients) 1 / 7739
34
 (HPO:0003593) Infantile onset 249 / 7739
35
 (OMIM) Sclerosing glomerulonephropathy 1 / 7739

Associated genes:

IFT140;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mainzer-Saldino syndrome, or conorenal syndrome, is a multisystem disorder characterized by early-onset retinopathy, phalangeal cone-shaped epiphyses, and chronic renal disease. More variable features include short stature, craniosynostosis, small thorax, and hepatic fibrosis. It is considered a skeletal ciliopathy ...
Clinical Description OMIM The association of renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia was reported in 2 patients by Mainzer et al. (1970) and in 1 patient by Popovic-Rolovic et al. (1976). Robins et al. (1976) observed similar ...
Molecular genetics OMIM In 11 patients from 7 unrelated families with Mainzer-Saldino syndrome, Perrault et al. (2012) identified homozygous or compound heterozygous mutations in the IFT140 gene (see, e.g., 614620.0001-614620.0006). Mutations in the first patient were identified by ciliome sequencing and ...