" /> Short-rib thoracic dysplasia 9 with or without polydactyly - CISMeF





Preferred Label : Short-rib thoracic dysplasia 9 with or without polydactyly;

Symbol : SRTD9;

CISMeF acronym : SRTD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mainzer-saldino syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; Conorenal syndrome; MZSDS;

Description : 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 (summary by Perrault et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intraflagellar transport 140 gene (IFT140, 614620.0001);

Prefixed ID : #266920;

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03/05/2025


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