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--- facio-digito-genital_dysplasia_syndrome [2015/06/21 03:23] – created admin
+++ 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) ======
+====Main Features====
+  * Short stature
+  * brachydactyly
+  * shawl scrotum
+====Eye Findings====
+  * Hypertelorism (90%)
+  * Ptosis (50%)
+  * Downslanting palpebral fissures
+  * Strabismus
+  * Hyperopic astigmatism
+  * latent nystagmus
+  * blue sclera
+  * posterior embryotoxin
+  * corneal enlargement
+====Etiology====
+  * X-linked recessive, linked to Xp11.21
+  * Female carriers have minor manifestations
+  * 100 cases reported
+====Other Findings====
+  * Broad upper lip, anteverted nostrils
+  * Osteoconditis dessicans
+  * Stretchable skin
+====References====
+  * [[http://www.omim.org/entry/100050|OMIM 100050]]
+  * [[http://www.omim.org/entry/305400?search=%2A305400&highlight=%2A305400|OMIM #305400]]
+  * //Pediatric Ophthalmology and Strabismus// eds. Wright KW, Spiegel PH. 2nd ed. p.1029
+{{tag>syndrome}}

syndrome