Ablepharon-macrostomia syndrome (Q94105)
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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 |
||
| 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. |
Statements
CID11:ID_240063776
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dki-india-ID_240063776
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Concluído
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15 August 2026
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