Dysplasia, cranio-carpo-tarsal Q87.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

cranio-carpo-tarsal dysplasia; Freeman-Sheldon Syndrome; whistling mouth syndrome

Definition
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Rare, probably autosomal-dominantly inherited, combined malformation of the face, hands and feet.

Clinical features
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Microstomy, bulging lips, mimic rigidity, receding chin, skull, weak, flaccid arm muscles, bending contractures and ulnar deviation of the fingers, congenital pointed clubfoot, short stature.

Differential diagnosis
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Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020