Down Syndrome

Down Syndrome (Trisomy 21): Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, body height; furthermore: Inspection (viewing). Skin, mucous membranes and sclerae (white part of the eye) [due tomultiple dermatological sequelae]. Gait [limping] Body or joint posture Malpositions [deformity, shortening, rotational malposition]. Muscular … Down Syndrome (Trisomy 21): Examination

Down Syndrome (Trisomy 21): Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests. Chromosome analysis – this can detect changes in the number as well as the structure of chromosomes (numerical/structural chromosomal aberrations). Detection of cell-free DNA (cfDNA test, cell-free DNA test), e.g.: NIPT (noninvasive prenatal test; synonyms: Harmony test; Harmony prenatal test). PraenaTest For trisomy 21, the above tests … Down Syndrome (Trisomy 21): Test and Diagnosis

Down Syndrome (Trisomy 21): Diagnostic Tests

Mandatory medical device diagnostics. If applicable, nuchal fold transparency measurement by sonography (ultrasound examination) – performed optimally between the 11th and 14th week of pregnancy; if the skull is larger than 45 mm, this may indicate the following other chromosomal disorders in addition to Down syndrome: Trisomy 10, trisomy 13 (Pätau syndrome), trisomy 15, trisomy … Down Syndrome (Trisomy 21): Diagnostic Tests

Down Syndrome (Trisomy 21): Symptoms, Complaints, Signs

The following physical symptoms and complaints may indicate Down syndrome (trisomy 21): Rounded face General reduction in the size of the upper limbs (especially hands and fingers) Pronounced furrow between the first and second toes. Restricted muscle tone Myasthenia (muscle weakness) Smaller and almond-shaped eyes Smaller mouth, nose and head Macroglossia (enlargement of the tongue). … Down Syndrome (Trisomy 21): Symptoms, Complaints, Signs

Down Syndrome (Trisomy 21): Medical History

Family history (medical history) is an important component in the diagnosis of Down syndrome (trisomy 21) sequelae. Family history Are there any hereditary diseases in your family? Current anamnesis/systemic anamnesis (somatic and psychological complaints) – External anamnesis due to clarification of secondary diseases occurring in early childhood. Does pain occur during flexion of the neck … Down Syndrome (Trisomy 21): Medical History

Down Syndrome (Trisomy 21): Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). DIDMOAD syndrome (synonym: Wolfram syndrome) – genetic disorder with autosomal recessive inheritance; symptom complex with diabetes mellitus, diabetes insipidus (hormone deficiency-related disorder in hydrogen metabolism leading to extremely high urine excretion (polyuria; 5-25 l/day) due to impaired concentrating capacity of the kidneys), optic atrophy (tissue atrophy (atrophy) of … Down Syndrome (Trisomy 21): Or something else? Differential Diagnosis

Down Syndrome (Trisomy 21): Complications

The following are the most important conditions or complications that may be contributed to by Down syndrome (trisomy 21): Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Malformations of the gastrointestinal tract – prevalence (disease incidence): 7%. Hirschsprung’s disease (MH; synonym: megacolon congenitum) – genetic disorder with both autosomal recessive inheritance and sporadic occurrence; disorder affecting … Down Syndrome (Trisomy 21): Complications

Down Syndrome (Trisomy 21): Classification

According to the ICD-10 (International Statistical Classification of Diseases and Related Health Problems), Down syndrome is classified as follows, depending on the suspected etiology (cause): ICD-10 Q90.0: Trisomy 21, meiotic nondisjunction (Free trisomy 21). ICD-10 Q90.1: Trisomy 21, mosaic (mitotic non-disjunction). ICD-10: Q90.2 trisomy 21, translocation ICD-10: Q90.9 Down syndrome, unspecified.

Down Syndrome (Trisomy 21): Causes

Pathogenesis (development of disease) Chromosomes are strands of deoxyribonucleic acid (DNA) with what are called histones (basic proteins inside a nucleus) and other proteins; the mixture of DNA, histones, and other proteins is also called chromatin. They contain genes and their specific genetic information. In the human body, the number of chromosomes is 46, with … Down Syndrome (Trisomy 21): Causes

Down Syndrome (Trisomy 21): Therapy

General measures Nicotine restriction (refraining from tobacco use). Limited alcohol consumption (men: max. 25 g alcohol per day; women: max. 12 g alcohol per day). Limited caffeine consumption (max 240 mg of caffeine per day; equivalent to 2 to 3 cups of coffee or 4 to 6 cups of green/black tea). Avoidance of psychosocial stress: … Down Syndrome (Trisomy 21): Therapy