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Expanded phenotype and ethnicity in Setleis syndrome
R D Clark1, M Golabi, Y Lacassie
1Department of Pediatrics, Harbor/UCLA Medical Center, Torrance.
American Journal of Medical Genetics
|November 1, 1989
Summary
Setleis syndrome, a rare genetic disorder, presents with distinct facial features and chronic conjunctivitis. This study identifies new cases in non-Puerto Rican children, expanding the known population affected by this condition.
Area of Science:
- Genetics
- Dermatology
- Ophthalmology
Background:
- Setleis syndrome is an autosomal recessive disorder previously documented in 8 Puerto Rican children.
- The syndrome is characterized by specific facial anomalies including coarse face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips.
Observation:
- This report details three unrelated children diagnosed with Setleis syndrome.
- These patients are not of Puerto Rican descent, broadening the ethnic and geographic scope of the disorder.
- One of the affected children also exhibits intellectual disability.
Findings:
- Two of the reported patients presented with imperforate anus, a previously undocumented feature of Setleis syndrome.
- The study illustrates the phenotypic evolution of Setleis syndrome over time in affected individuals.
Implications:
- These findings suggest Setleis syndrome may occur in diverse populations beyond Puerto Rico.
- The identification of imperforate anus as a potential feature expands the diagnostic criteria and understanding of the syndrome's spectrum.
- Further research is warranted to explore the genetic basis and broader clinical manifestations of Setleis syndrome.