Down syndrome Q90.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Bullshit trisomal dysmorphic; Langdon-Down disease; Mongolism; mongoloid idiocy; Mongoloid idiocy; trisomal dysmorphic imbecility; trisomy 21

History
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Esquirol, 1838; Séguin, 1846; Down, 1866

Definition
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Clinically characteristic syndrome caused by chromosomal aberration with tripling of chromosome 21.

Occurrence/Epidemiology
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Most common hereditary syndrome. Incidence: Approx. 1/1,000 births.

Etiopathogenesis
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In 95% of cases free trisomy of chromosome 21, translocation trisomy in 2.5%, mosaic trisomy in 2.5%.

Clinical features
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  • Most frequent lesions: ichthyosis, keratosis palmoplantaris diffusa circumscripta, lentigines, atrophy, acrocyanosis, absence of axillary hair, canities, total alopecia, livedo reticularis. In the newborn normal skin. In childhood, loss of elasticity, decrease until the secretion of sebum and sweat glands stops with consecutive dry, dull skin.
  • Extracutaneous manifestations: Characteristic are epicanthus, outwardly upwards sloping eyelids, brushfield spots (white spotting of the iris), small nose, small dysplastic ears, large tongue, brachy- and clinodactyly of the small fingers, furrow of four fingers, gap in the sandal, hypotonia of the muscles, hyperextensibility of the joints. Often heart defects. Average developmental and intelligence quotient < 50.

Therapy
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Causal not possible, symptomatic therapy according to the clinic.

Literature
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  1. Down JLH (1866) Marriages in Consanguinity in Relation to Degeneration of Race. Clinical lectures and reports by the medical and surgical staff of the London Hospital 3: 224-236
  2. Esquirol JED (1838) Des maladies mentales considerées sous le rapport médicale, hygiènique et médico-legal. Baillière, Paris
  3. Séguin E (1846) Traitement moral, hygiène et éducation des idiots et des autres enfants arriérés Baillière, Paris

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020