Preferred Label : leg, absence deformity of, with congenital cataract;

Définition CISMeF : Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.;

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Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2310
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France
scientific and technical information
cataract
cataract
leg, absence deformity of, with congenital cataract
leg, absence deformity of, with congenital cataract
leg

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27/07/2025


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