Ablepharon-macrostomia syndrome (Q94105): Difference between revisions
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| description / pt-br | description / pt-br | ||
Síndrome ablefaria-macrostomia é caracterizada pela associação de características faciais (ausência de pálpebras, sobrancelhas e cílios; ponte nasal achatada; orelhas externas rudimentares; narinas hipoplásicas e antevertidas; ausência de arcos zigomáticos; bem como defeitos de fusão da boca resultando em uma boca alargada, semelhante a boca de peixe), genitais (genitália ambígua) e cutâneas (pele espessa e ressecada, com dobras redundantes) e atraso do desenvolvimento da linguagem. | |||
| description / en | description / en | ||
Ablepharon macrostomia syndrome is characterised by the association of facial (absent eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic and anteverted nostrils, absence of the zygomatic arches, as well as fusion defects of the mouth resulting in an enlarged, fish-like mouth), genital (ambiguous genitalia), and cutaneous features (coarse and dry skin, with redundant folds), and delayed language development. | |||
Revision as of 09:13, 16 August 2026
Ablepharon macrostomia syndrome is characterised by the association of facial (absent eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic and anteverted nostrils, absence of the zygomatic arches, as well as fusion defects of the mouth resulting in an enlarged, fish-like mouth), genital (ambiguous genitalia), and cutaneous features (coarse and dry skin, with redundant folds), and delayed language development.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_240063776 |
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| English | Ablepharon-macrostomia syndrome |
Ablepharon macrostomia syndrome is characterised by the association of facial (absent eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic and anteverted nostrils, absence of the zygomatic arches, as well as fusion defects of the mouth resulting in an enlarged, fish-like mouth), genital (ambiguous genitalia), and cutaneous features (coarse and dry skin, with redundant folds), and delayed language development. |
