Beals Syndrome or Congenital Contractural Arachnodactyly CCA or Beals–Hecht syndrome скачать в хорошем качестве

Beals Syndrome or Congenital Contractural Arachnodactyly CCA or Beals–Hecht syndrome

Beals Syndrome — also known as Congenital Contractural Arachnodactyly (CCA) or Beals–Hecht syndrome — is a rare autosomal dominant connective tissue disorder caused by mutations in the FBN2 gene (fibrillin-2). It shares some similarities with Marfan syndrome but has distinct features. Key Characteristics Body build: Tall, slender frame; arm span often exceeds height (marfanoid habitus). Hands/feet: Long, slender fingers and toes (arachnodactyly). Joints: Multiple congenital contractures (stiff joints, especially in elbows, knees, and fingers). Spine: Kyphoscoliosis (curvature of the spine). Ears: Crumpled or malformed ear cartilage (a distinctive feature). Muscles: Hypoplasia (underdevelopment). Other features: High-arched palate, micrognathia (small jaw), sometimes eye problems like myopia or ectopia lentis. Onset & Inheritance Present at birth (congenital). Inherited in an autosomal dominant pattern — meaning one copy of the altered gene is enough to cause the condition. Treatment & Management Physical therapy: Helps improve mobility and reduce stiffness. Bracing or surgery: May be needed for severe kyphoscoliosis or joint contractures. Monitoring: Regular follow-up for skeletal and cardiovascular health (though heart involvement is less common than in Marfan syndrome). Prognosis Life expectancy is usually not shortened, but quality of life depends on severity of contractures and spinal deformities #Syndrome