Cranio-Carpo Tarsal-Dysplasia | definition of Cranio-Carpo Tarsal-Dysplasia by Medical dictionary
Whistling Face (redirected from Cranio-Carpo Tarsal-Dysplasia)
An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like facies—small ‘pursed’ lips, deep-set/sunken eyes, epicanthus, hypoplastic nasal alae, blepharophimosis,strabismus, patientosis—accompanied by failure to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot
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