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| facio-digito-genital_dysplasia_syndrome [2015/11/10 03:52] – external edit 127.0.0.1 | facio-digito-genital_dysplasia_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
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| ====== Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome) ====== | ====== Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome) ====== | ||
| - | =====Main Features===== | + | ====Main Features==== |
| - | Short stature, brachydactyly, shawl scrotum | + | * Short stature |
| + | * brachydactyly | ||
| + | * shawl scrotum | ||
| - | =====Eye Findings===== | + | ====Eye Findings==== |
| * Hypertelorism (90%) | * Hypertelorism (90%) | ||
| Line 17: | Line 19: | ||
| * corneal enlargement | * corneal enlargement | ||
| - | =====Etiology===== | + | ====Etiology==== |
| * X-linked recessive, linked to Xp11.21 | * X-linked recessive, linked to Xp11.21 | ||
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| * 100 cases reported | * 100 cases reported | ||
| - | =====Other Findings===== | + | ====Other Findings==== |
| * Broad upper lip, anteverted nostrils | * Broad upper lip, anteverted nostrils | ||
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| * Stretchable skin | * Stretchable skin | ||
| - | =====References===== | + | ====References==== |
| * [[http:// | * [[http:// | ||