Last Updated :2025/11/30

Weill-Marchesani syndrome

Noun
uncountable
Japanese Meaning
非常にまれな遺伝性疾患で、低身長、頭部の短狭(頭が比較的丸く短い状態)、顔面の異常、手の先端部分(短指症を含む)の異常、そして特徴的な眼の異常を呈する
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小児科医は、彼女の低身長と特徴的な顔貌が、低身長、短頭症、その他の顔面異常を特徴とする稀な遺伝性疾患の症状であると説明した。

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A rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities; hand defects, including brachydactyly; and distinctive ocular abnormalities.

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Weill-Marchesani syndrome

The pediatrician explained that her short stature and distinctive facial features were symptoms of Weill-Marchesani syndrome.

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The pediatrician explained that her short stature and distinctive facial features were symptoms of Weill-Marchesani syndrome.

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