whistling face syndrome

cra·ni·o·car·po·tar·sal dys·tro·phy

[MIM*193700]

a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance.

Synonym(s): craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome

whistling face syndrome, whistling face-windmill vane hand syndrome

See Freeman-Sheldon syndrome.

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