Synonym(s)
Bullshit trisomal dysmorphic; Langdon-Down disease; Mongolism; mongoloid idiocy; Mongoloid idiocy; trisomal dysmorphic imbecility; trisomy 21
HistoryThis section has been translated automatically.
Esquirol, 1838; Séguin, 1846; Down, 1866
DefinitionThis section has been translated automatically.
Clinically characteristic syndrome caused by chromosomal aberration with tripling of chromosome 21.
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Occurrence/EpidemiologyThis section has been translated automatically.
Most common hereditary syndrome. Incidence: Approx. 1/1,000 births.
EtiopathogenesisThis section has been translated automatically.
In 95% of cases free trisomy of chromosome 21, translocation trisomy in 2.5%, mosaic trisomy in 2.5%.
Clinical featuresThis section has been translated automatically.
- 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.
TherapyThis section has been translated automatically.
Causal not possible, symptomatic therapy according to the clinic.
LiteratureThis section has been translated automatically.
- 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
- Esquirol JED (1838) Des maladies mentales considerées sous le rapport médicale, hygiènique et médico-legal. Baillière, Paris
- Séguin E (1846) Traitement moral, hygiène et éducation des idiots et des autres enfants arriérés Baillière, Paris
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Aortic isthmus stenosis; Bullshit, trisomal, dysmorphic; Ear malformations; Elastosis perforans serpiginosa; Four finger furrow; Idiocy, mongoloid; Langdon-down disease; Leukaemia acute; Livedo reticularis; Macroglossia; ... Show allOutgoing links (9)
Acrocyanosis; Alopecia (overview); Atrophy of the skin (overview); Canities (overview); Four finger furrow; Ichthyosis (overview); Keratosis palmoplantaris diffusa with mutations in KRT 9; Lentigo; Livedo reticularis;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer