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Variability of Stickler syndrome
J Zlotogora1, M Sagi, A Schuper
1Department of Human Genetics, Hadassah Medical Center, Kaplan Hospital, Rehovot, Israel.
American Journal of Medical Genetics
|February 1, 1992
Summary
Stickler syndrome, a dominantly inherited disorder, shows significant variability between families but consistent symptoms within families. This suggests Stickler syndrome may represent a spectrum of phenotypes rather than a single genetic condition.
Area of Science:
- Genetics
- Ophthalmology
- Medical Genetics
Background:
- Stickler syndrome is a dominantly inherited connective tissue disorder.
- It presents with diverse ocular and nonocular manifestations.
- Phenotypic variability is a known characteristic of Stickler syndrome.
Observation:
- A study examined three families with Stickler syndrome and reviewed existing literature.
- Significant interfamilial variability in clinical presentation was observed.
- Intrafamilial clinical manifestations showed notable similarities.
Findings:
- One family exhibited high myopia and early-onset retinal detachment.
- Another family presented with cleft palate, distinct facial features, and mild ocular issues.
- A third family displayed marfanoid habitus, high myopia, and intellectual disability.
Implications:
- The observed interfamilial variability and intrafamilial consistency suggest a broader phenotypic spectrum.
- Stickler syndrome may encompass multiple genetic entities presenting as a similar phenotype.
- Further research is needed to delineate distinct genetic causes within the Stickler syndrome spectrum.