Trichothiodystrophy (Q87733): Difference between revisions
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Tricotiodistrofia é um grupo heterogêneo de transtornos caracterizados por cabelos curtos e quebradiços com baixo teor de enxofre (devido a uma síntese anormal de queratinas contendo enxofre). Dentro do espectro das síndromes TTD estão numerosas síndromes que afetam principalmente órgãos derivados do neuroectoderma. O quadro clínico é sempre caracterizado por cabelos quebradiços e frágeis, frequentemente associados a retardo de crescimento e déficit intelectual, ictiose congênita e anormalidades ungueais, entre outros sintomas. | |||
| description / en | description / en | ||
Trichothiodystrophy is a heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Within the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. The clinical appearance is always characterised by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms. | |||
Revision as of 13:38, 15 August 2026
Trichothiodystrophy is a heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Within the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. The clinical appearance is always characterised by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1366758649 |
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| English | Trichothiodystrophy |
Trichothiodystrophy is a heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Within the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. The clinical appearance is always characterised by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms. |
