Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Lymphedema-Distichiasis Syndrome

System/
Concern		EvaluationComment
Eyes Ophthalmologic eval
  • Slit lamp eval for distichiasis & related problems of corneal irritation, recurrent conjunctivitis, & photophobia
  • Assess for ptosis.
  • Assess for strabismus.
Lymphedema Physical exam of lower legs to document presence of lymphedema & any evidence of cellulitisIsotope lymphoscintigraphy to detect lymphatic weakness before onset of swelling
Vascular Physical exam of varicose veins w/young onset (adolescence / early adulthood)Venous duplex scans
Cleft palate Assess for cleft palate or Pierre Robin sequence.
Cardiovascular Assess for congenital heart defects.
  • Echocardiogram
  • Further eval if clinical evidence suggests arrhythmias
Spine Assess for spinal extradural arachnoid cyst.
  • Cysts can result in fluctuating symptoms (e.g., when enlarged, they may compress the root or cord & result in pain or weakness).
  • Spinal MRI if symptomatic
Assess for scoliosis.
Renal Renal ultrasound evalAssess for renal anomalies.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselor

From: Lymphedema-Distichiasis Syndrome

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