The reference OMIM entry for this protein is 266920

Short-rib thoracic dysplasia 9 with or without polydactyly; srtd9
Mainzer-saldino syndrome; mzsds
Conorenal syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia

A number sign (#) is used with this entry because short-rib thoracic dysplasia-9 with or without polydactyly (SRTD9) is caused by homozygous or compound heterozygous mutation in the IFT140 gene (614620) on chromosome 16p13.

DESCRIPTION

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).

CLINICAL FEATURES

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 skeletal changes and hepatic fibrosis with renal dysplasia. Giedion (1979) summarized the cases of 8 patients under the age of 11 years with chronic renal failure and phalangeal cone-shaped epiphyses of the hands, coining the term 'conorenal syndrome.' Half of Giedion's patients had retinitis pigmentosa and 25% had ataxia. Giedion (1979) reported nephronophthisis in his patients; however, neither biopsy material nor clinical course was available to confirm that diagnosis. Mendley et al. (1995) extended the delineation of the conorenal syndrome to include renal histopathologic and clinical features of a primarily glomerular disorder. They reported 2 sibs, aged 7 and 19 years, with cone-shaped phalangeal epiphyses and renal disease that was different in nature and rate of progression from cases previously described: the clinical features of nephronophthisis (medullary cystic kidney disease) were absent and, while the younger sib had reached end-stage renal disease, the older sib's renal function was only modestly impaired and had remained nearly unchanged for several years. The brother and sister were of Mexican extraction. The 7-year-old sister had prominent cone-shaped epiphyses in the distal phalanges and cone-shaped epiphyses in the middle phalanges of the index and fifth fingers. The 19-year-old brother had very short distal phalanges, some of which appeared flexed, and the middle phalanges of the second and fifth digits were markedly short. Both parents were phenotypically normal; hand radiographs in the mother were normal without signs of cone-shaped epiphyses. Percutaneous renal biopsy showed global scarring and acellularity of many glomeruli in both sibs. B ... More on the omim web site

Subscribe to this protein entry history

June 30, 2020: Protein entry updated
Automatic update: OMIM entry 266920 was added.

May 11, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).