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[The Freeman-Sheldon Syndrome].

G Aldinger, J Eulert

Zeitschrift Fur Orthopadie Und Ihre Grenzgebiete

|September 1, 1983

Summary

This summary is machine-generated.

Freeman-Sheldon syndrome (FSS), a rare genetic disorder, causes distinctive facial and limb deformities. Early genetic counseling and consistent treatment are crucial for managing this autosomal dominant condition.

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Area of Science:

Medical Genetics
Pediatric Orthopedics
Clinical Dysmorphology

Background:

Freeman-Sheldon syndrome (FSS), also known as craniocarpotarsal dysplasia, presents with a characteristic triad of symptoms.
The exact pathogenesis of FSS remains unknown, posing challenges for understanding and treatment.
The condition follows an autosomal dominant, non-sex-linked inheritance pattern, necessitating genetic counseling.

Observation:

Key features include a masklike, "whistling" facial expression (whistling face syndrome).
Hand deformities involve ulnar deviation of digits II-V and thumb adduction contractures.
Significant foot deformities are also a hallmark of FSS.

Findings:

FSS is distinguished from arthrogryposis multiplex congenita and congenital windmill deformity.

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The characteristic hand and foot deformities associated with FSS are often resistant to treatment.

Management requires persistent conservative and operative interventions, frequently involving multiple extensive surgeries.

Implications:

Accurate diagnosis and differential diagnosis are critical for appropriate patient management.
Genetic counseling is imperative for affected individuals and families due to the autosomal dominant inheritance.
The complex and resistant nature of deformities underscores the need for specialized, long-term care strategies.