Short-rib thoracic dysplasia 2 with or without polydactyly, 611263, Autosomal recessive; SRTD2 (Jeune syndrome) (IFT80 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000580429.1
Last updated: 2020-05-19
Test version history
- 580429.1, last updated: 2020-05-19

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Asphyxiating thoracic dystrophy 2
Offered by Intergen

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from OMIM

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).

Imported from Human Phenotype Ontology (HPO)

Brachydactyly
Broad palm
Narrow chest
Postaxial hand polydactyly
Mesomelia
Short metacarpal
Short foot
Rhizomelia

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Conditions tested

Short-rib thoracic dysplasia 2 with or without polydactyly, 611263, Autosomal recessive; SRTD2 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical resources

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Short-rib thoracic dysplasia 2 with or without polydactyly, 611263, Autosomal recessive; SRTD2 (Jeune syndrome) (IFT80 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Indication

Clinical summary

Imported from OMIM

Clinical features