--- title: Exome analysis of cases with skeletal dysplasia description: Andrea Haworth at Congenica presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine event that looked at cases of skeletal dysplasia.   image: https://blog.congenica.com/hubfs/Canva%20images/Exome%20analysis%20of%20prenatal%20and%20postnatal%20cases%20referred%20with%20skeletal%20dysplasia%20an%20overview%20of%20genomic%20and%20phenotypic%20findings-1.png --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [Exome analysis of cases with skeletal dysplasia](https://blog.congenica.com/exome-analysis-of-prenatal-and-postnatal-cases-referred-with-skeletal-dysplasia-an-overview-of-genomic-and-phenotypic-findings) ![Exome analysis of cases with skeletal dysplasia](https://blog.congenica.com/hubfs/Canva%20images/Exome%20analysis%20of%20prenatal%20and%20postnatal%20cases%20referred%20with%20skeletal%20dysplasia%20an%20overview%20of%20genomic%20and%20phenotypic%20findings-1.png) Blog Clinical Cases genomics # Exome analysis of cases with skeletal dysplasia 4/28/2021    |    0 min read Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia: an overview of genomic and phenotypic findings  Andrea Haworth, Lead Clinical Scientist, Rare Disease, at Congenica, presented a poster at the recent Rady’s Frontiers in Pediatric Genomic Medicine event that looked at cases of skeletal dysplasia.     [![Andrea_poster_Radys](https://blog.congenica.com/hs-fs/hubfs/AH%20poster%20radys%20snapshot.png?width=1407&name=AH%20poster%20radys%20snapshot.png)](https://blog.congenica.com/hubfs/A%20Haworth%20poster.pdf) [![View the poster](https://no-cache.hubspot.com/cta/default/6863388/6e140a28-a811-4f0a-8c22-e718b708fba9.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/6e140a28-a811-4f0a-8c22-e718b708fba9) Skeletal dysplasias are disorders affecting the skeleton and whilst rare, represent approximately 5% of all congenital anomalies. They are highly heterogeneous, with approximately 400 known gene/disorder associations. Many skeletal dysplasias are detected in pregnancy but accurate diagnosis in both prenatal and postnatal settings often relies on expert interpretation of radiological findings since clinical findings are often non-specific.   Patient outcomes vary across the cohort of disorders and traditionally treatment for patients has been focused on surgical interventions to manage life threatening complications. New therapeutic developments, such as vosoritide and infigratinib for children with achondroplasia, have highlighted the need to provide accurate and timely diagnosis for this patient cohort.    This poster describes the genomic and phenotypic findings of 53 cases referred to a clinical genetics service over an approximately 2.5-year period. All cases underwent exome sequencing (ES) as part of a service provided by Congenica and the South West Thames Regional Genetics Service, London. The 53 cases represent 6.8% (53/777) of all cases referred for ES. In the poster 64% of cases that received a molecular diagnosis were identified in a prenatal setting.   For researchers analyzing fetal anomalies, Congenica Prenatal is a pre-configured module available within the Congenica Clinical Decision Support platform for research use, with expertly curated and annotated gene panels, enabling you to identify the genetic causes of ultrasound-detected fetal anomalies faster than ever before.  [Find out more about our Prenatal Congenica solution](https://www.congenica.com/solutions/specialist-modules/congenica-prenatal/)     --- ### Related articles ![Congenica secures new two-year contract with Hong Kong Genome Project](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20-%202023-10-04T140704.962.png?width=320&height=192&name=Untitled%20design%20-%202023-10-04T140704.962.png) 10/4/2023 #### [Congenica secures new two-year contract with Hong Kong Genome Project](https://blog.congenica.com/congenica-secures-new-two-year-contract-with-hong-kong-genome-project) Congenica announces a two-year extension to their contract with the Hong Kong Genome Project (HKGP). ![Congenica co-founder Professor Richard Durbin awarded the 39th International Prize for Biology](https://blog.congenica.com/hs-fs/hubfs/Add%20a%20title%20(2).png?width=320&height=192&name=Add%20a%20title%20(2).png) 9/5/2023 #### [Congenica co-founder Professor Richard Durbin awarded the 39th International Prize for Biology](https://blog.congenica.com/richard-durbin-awarded-39th-international-prize-for-biology) Congenica Informatics Director Richard Durbin has been awarded the International Prize for Biology by the Japan Society of the Promotion of Science. ![The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20(8).png?width=320&height=192&name=Untitled%20design%20(8).png) 2/24/2023 #### [The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/the-road-to-diagnosis-how-genetics-transforms-the-lives-of-rare-disease-patients) In recognition of Rare Disease Day, Congenica looks at the importance of a genetic diagnosis for patients and asks, what's next for rare disease? ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. 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