Identifying the genetic cause of malformation can be very challenging

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Genetic testing for malformation and retardation syndromes

Our genetic testing and medical expertise provide the most effective combination to understand the underlying causes of malformation and retardation syndromes.

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Symptoms related to a genetic cause

Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. Birth defects can be inherited, including errors of morphogenesis, epigenetic modifications on a parental germline (i.e. the effect of the environment on gene expression), or a chromosomal abnormality. The prevalence of structural birth defects varies globally1, ranging from approximately 3% to 6% of all live births. Most structural birth defects develop early in embryogenesis, during the first ten weeks of pregnancy, and the majority of these defects occur in isolation affecting only one organ system2.

Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development.

Referral reasons

  • Individuals with presentation of the most common disorder

  • Individuals with a positive family history 

  • Individuals without a positive family history but with symptoms resembling the specific disease indication

  • Individuals with a negative but suspected family history in order to perform proper genetic counseling (prenatal analyses are recommended in families with affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

What do we know about malformation and retardation syndromes?

Malformation and retardation syndromes are a broad group of different disorders, characterized by inborn abnormalities of the body and organ growth and development.

The majority of inborn malformations are caused by gene defects. The most prevalent defects are orofacial clefts, heart, neural tube and limb defects3. Malformations can present as part of a complex syndrome, typically caused by mutations in several genes, or they can be isolated and associated with a mutation in a single gene.

Most major malformations are non-specific to a particular syndrome, and because they display a broad spectrum of skeletal, neurological, cardiological and other clinical features, getting a correct diagnosis, including identification of any genetic component, in order to start the available treatment is challenging but essential to maximize effectiveness of any intervention.

An accurate and early syndromic diagnosis of congenital malformations is of vital importance, as late diagnosis can result in a delay in intervention and treatment of accompanying anomalies such as congenital heart defects or endocrine disorders.

Scientific Articles on malformation and retardation syndromes

  • Arthrogryposis

    Arthrogryposis is a clinical feature of joint contractures and resulting restriction of movements and is characteristic for more than 300 different disorders. Arthrogryposis, e.g. congenital contractures, can be isolated contractures, affecting only a single area of the body, or multiple. The most…

  • Cornelia de Lange syndrome panel

    Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…

  • Meckel syndrome panel

    Meckel syndrome (MES), also known as Meckel-Gruber syndrome, belongs to the group of ciliopathies, caused by dysfunction of primary cilia during embryogenesis.

Clinical findings and genetic background of the most prevalent hereditary malformation diseases

Disease Gene/Genes Clinical findings Prevalence and epidemiology Onset
Bardet-Biedl syndrome BBS5, MKKS, BBS7, TTC8, BBS9, etc. Night blindness, truncal obesity, postaxial polydactyly. Cardiac abnormalities in 50%, vascular anomalies are common findings. 1/100,000 in US 1/160,000 in Switzerland 1/13,500 in Kuwait Childhood to late onset
Meckel syndrome MKS1, TMEM216, TMEM67, CEP290, TCTN2, etc. Enlarged kidneys with cysts; an occipital encephalocele, polydactyly, atrial septal defect, aorta coarctation, patent arterial duct and valvular pulmonary stenosis 1/ 13,250 –140,000 worldwide, 1/9,000 in Finland Prenatal

What can CENTOGENE do for you and your patients?

CENTOGENE has identified genetic variants associated with malformation and retardation syndromes in more than 450 different genes.

CentoMD® is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants. We carefully curate and document all variants that have clinical relevance for related symptoms, allowing the most comprehensive diagnosis of a reproductive disease.

  1. Christianson A, Howson CP, & Modell B. March of Dimes global report on birth defects: the hidden toll of dying and disabled children. 2006. White Plains: March of Dimes.
  2. Hobbs CA, Chowdhury S, Cleves MA, Erickson S, MacLeod SL, Shaw GM, Tycko B (2014). Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377.
  3. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Research Part A: Clinical and Molecular Teratology, 88(12), 1008-1016.

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