Table of Contents
Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome)
Main Features
Eye Findings
Etiology
Other Findings
References
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
OMIM 100050
OMIM #305400
Pediatric Ophthalmology and Strabismus
eds. Wright KW, Spiegel PH. 2nd ed. p.1029
syndrome