Dictionary > Craniocarpotarsal dysplasia

Craniocarpotarsal dysplasia

Craniocarpotarsal dysplasia –>
craniocarpotarsal dystrophy
congenital association of skeletal defects (ulnar deviation of hands with camptodactyly, talipes equinovarus, and frontal bone defects) and characteristic facies (protrusion of lips as in whistling, sunken eyes with hypertelorism, and small nose); autosomal dominant inheritance.
Synonym: craniocarpotarsal dysplasia, freeman-sheldon syndrome, whistling face syndrome.

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