Definition:
Freeman-Sheldon Syndrome is a multiple congenital contracture syndrome. It is the rarest of all MCC syndromes and is the most severe among forms of distal arthrogryposis. Freeman-Sheldon Syndrome is also called whistling-face syndrome and distal arthrogryposis type 2A (DA2A
Diagnosis:
No prenatal diagnosis is yet available. Observe child for abnormal physical features like small mouth, sunken eyes, dropped eyelids, Y-shaped chin dimpling, curyed spine, ad others.
Treatment:
Early consultations with qualified doctors are advised. If possibilities of improvement, correction, or enhancement are present in the areas of craniofacial, clubfoot, or hand problems, one may consult with craniofacial and also orthopaedic surgeons. Surgical procedures are to be cautiously and conservatively pursued since procedures may complicate matters and may worsen patient's health condition. The earliest possible treatment is recommended as early intervention always increases success rates. Psychotherapy (and marriage counseling) is a must in order to address depression and anxiety problems if present.
Other treatments will be the use of feeding and breathing support, speech therapy, dental prostheses, plastic surgery for malformation corrections, physical and occupations therapy, and others.
Symptoms and Signs:
Symptoms would include scoliosis, talipes equinovarus, muscle eye abnormalities, camptodactyly, microstomia, attenuated movement of the muscles of facial expression , high-arched palate, and anomalies in the musculoskeletal system.
Causes:
Freeman-Sheldon syndrome can be inherited. It is a genetic trait which is autosomal dominant. But there are random cases of this condition, which have no linked to family medical histories whatsoever.
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