It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

Methods and results We collected 16 families presenting three diagnostic criteria of MSS. Through ciliome re-sequencing combined to Sanger sequencing, we identified IFT140 mutations in seven MSS families. [ciliajournal.biomedcentral.com]

Presentation[edit] This section is empty. You can help by adding to it. (April 2022) Genetics[edit] The exact gene loci has not been characterized. [en.wikipedia.org]

Case presentation: We report the first successful anesthetic management of a 26-year-old man with Mainzer-Saldino Syndrome who underwent scoliosis deformity surgical correction. [jaccr.com]

Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [ncbi.nlm.nih.gov]

• Short Stature

  The syndrome's key characteristics are: phalangeal cone-shaped epiphyses chronic renal failure premature, severe retinal dystrophy proximal femoral radiographic abnormality In some patients also: short stature cerebellar ataxia hepatic fibrosis References [radiopaedia.org]

  […] ataxia hepatic fibrosis mental Retardation short stature manifestation neonatal frequency <1 : 1.000.000 inheritance autosomal – recessive pathogenesis Underlying mutations lead to defects of the intraflagellar transport of primary cilia. progress and [neocyst.de]

  Occasionally, other skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. [rarediseases.oscar.ncsu.edu]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

• Hypothermia

  Mild hypothermia, blood loss and complications in elective spinal surgery. Spine J. 2004;4:130–7. [jaccr.com]

• Night Blindness

  Night blindness is a feature although the age of onset is unknown. Visual acuity is decreased in the first decade but at least one patient at age 40 years still had vision of 20/40-20/50. [disorders.eyes.arizona.edu]

• Cerebellar Ataxia

  Keywords Lynch Syndrome Retinitis Pigmentosa Cerebellar Ataxia Medical Genetic Chondrodysplasia Punctata These keywords were added by machine and not by the authors. [link.springer.com]

  Minagi: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. American Journal of Medicine, New York, 1970, 49: 556-562. R. M. Saldino, F. [whonamedit.com]

  Go To Source: Genetics Home Reference Orphanet Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Go To Source: Orphanet [rarediseases.oscar.ncsu.edu]

  The syndrome's key characteristics are: phalangeal cone-shaped epiphyses chronic renal failure premature, severe retinal dystrophy proximal femoral radiographic abnormality In some patients also: short stature cerebellar ataxia hepatic fibrosis References [radiopaedia.org]

  These can include liver disease resulting in a buildup of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is difficulty with coordination and balance arising from problems with a part of the brain called the cerebellum; and mild [encyclopedia.pub]

• Kidney Failure

  (April 2022) Outcomes[edit] When originally characterized by Giedion, there was a relatively high mortality rate due to untreated kidney failure (end stage kidney disease - ESKD). [en.wikipedia.org]

  The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals. [rarediseases.oscar.ncsu.edu]

No causal treatment available. [neocyst.de]

Treatment Treatment Options: There is no treatment for the general disease. Renal and pulmonary function needs to be monitored with intervention as needed. Some patients have benefitted from renal transplantation. [disorders.eyes.arizona.edu]

[…] ataxia hepatic fibrosis mental Retardation short stature manifestation neonatal frequency <1 : 1.000.000 inheritance autosomal – recessive pathogenesis Underlying mutations lead to defects of the intraflagellar transport of primary cilia. progress and prognosis [neocyst.de]

Kidney disease has an onset in the first decade and its progression often defines the survival prognosis. Renal transplantation can be lifesaving when nephronophthisis develops. Psychomotor delays have been reported but are uncommon. [disorders.eyes.arizona.edu]

A familial disorder of unknown etiology. Inheritance is autosomal recessive. Bibliography F. Mainzer, R. M. Saldino, M. B. Ozonoff, H. Minagi: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. [whonamedit.com]

PMID: 33323469 Etiology J Craniofac Surg 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. PMID: 20856047 Diagnosis Vanhoenacker FM, Van Hoeck K JBR-BTR 2008 Jan-Feb;91(1):21. [ncbi.nlm.nih.gov]