Freeman-Sheldon Syndrome

Freeman-Sheldon Syndrome, also termed distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), or whistling-face syndrome, was originally described by Freeman and Sheldon in 1938.


Signs and symptoms
Features include:
• talipes equinovares - club foot



• camptodactyly - permanent flexure of one or more phylanges





• scoliosis - “S” or “C” shaped spinal curvature

• microstomia, often only a few millimeters in diameter at birth resulting from contractures of facial muscles; “whistling-face syndrome”



• high-arched palate
• attenuated movement of the muscles of facial expression

Cause
• FSS is caused by genetic changes
• Inheritance may be either autosomal dominant or autosomal recessive

Epidemiology

• As of 1990, 65 FSS patients had been reported in the literature, with no sex or ethnic preference notable.
• Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe CNS involvement or respiratory complications.
• Life expectancy is normal

Management
• Patients must have early consultation with craniofacial and orthopedic surgeons when craniofacial, clubfoot, or hand correction is indicated to improve function or aesthetics.
• Early interventions hold the possibility to minimise developmental delays and negate the necessity of relearning basic functions.
• Due to the abnormal muscle physiology in Freeman-Sheldon syndrome, therapeutic measures may have unfavourable outcomes

• Difficult endotracheal intubations and vein access complicate operative decisions in many patients

• Malignant hyperthermia may affect individuals with FSS, as well
• Focus is on limiting exposure to infectious diseases because the musculoskeletal abnormalities make recovery from routine infections much more difficult in FSS patients.
• Pneumonitis and bronchitis often follow seemingly mild upper respiratory tract infections.
• Respiratory challenges and complications faced by a patient with FSS can be numerous but the syndrome’s primary involvement is limited to the musculoskeletal systems, and satisfactory quality and length of life can be expected with proper care.

Psychiatric Considerations
• Mitigation of lasting psychological problems, including depression secondary to chronic illness and posttraumatic stress disorder (PTSD), can occur
• Patients with FSS should have pre-emptive and ongoing mixed cognitive therapy
Research
• FSS is an extremely rare condition, therefore systematic research is considered a low priority by major funders
• The priority for limited research funds is to determine the role and nature of malignant hyperthermia in FSS.
• Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols