Congenital contractural arachnodactyly (CCA/Beals syndrome)
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A newborn has long, slender fingers (arachnodactyly), multiple joint contractures, and "crumpled" ears. The baby has a Marfanoid appearance but no lens dislocation.
AD; FBN2 (fibrillin-2)
- Related to Marfan syndrome (FBN1 = fibrillin-1)
- Arachnodactyly
- Congenital contractures (knees, elbows, hips, fingers) - often improve with time
- "Crumpled" or folded ears (characteristic)
- Marfanoid body habitus
- Kyphoscoliosis
- NO lens dislocation (unlike Marfan)
- Minimal cardiovascular involvement
- Clinical: arachnodactyly plus congenital contractures plus the characteristic crumpled/folded ears in a marfanoid infant
- Distinguish from Marfan syndrome: contractures and crumpled ears favor CCA; ectopia lentis and significant aortic dilation favor Marfan
- Baseline echocardiogram to assess for aortic root dilation (usually mild and nonprogressive)
- FBN2 sequencing confirms
- Physical therapy and stretching for contractures, which often improve over time
- Orthopedic surveillance and management of kyphoscoliosis
- Periodic echocardiographic monitoring of the aortic root
BEALS = BEnt And Long, Skinny fingers and toes.
Fibrillin Two (FBN2) affects Fingers and Twoes (toes).
FBN2 "Pro-two-ects" against aortic root dilation: aortic root dilation is less severe in CCA than in Marfan syndrome (FBN1).