Related Experiment Videos
Oculo-facio-cardio-dental (OFCD) syndrome
R J Gorlin1, A H Marashi, H L Obwegeser
1University of Minnesota, School of Dentistry, Minneapolis 55455, USA.
American Journal of Medical Genetics
|May 3, 1996
Summary
Oculo-facio-cardio-dental syndrome is a rare genetic disorder affecting the eyes, face, heart, and teeth. This X-linked dominant condition, potentially lethal in males, presents with a range of characteristic anomalies.
Area of Science:
- Genetics
- Medical Genetics
- Rare Diseases
Background:
- Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder.
- It is characterized by a distinct constellation of anomalies affecting multiple organ systems.
Observation:
- OFCD syndrome presents with specific eye abnormalities such as congenital cataracts or microphthalmia.
- Facial features include a long narrow face, high nasal bridge, and cleft palate.
- Cardiac defects like atrial septal defect (ASD) and dental anomalies including canine radiculomegaly are observed.
Findings:
- The syndrome encompasses eye, facial, cardiac, and dental abnormalities.
- Less common manifestations include sensorineural hearing loss, septate vagina, and syndactyly.
- Inheritance is suggested to be X-linked dominant, with potential lethality in males.
Implications:
- Accurate diagnosis of OFCD syndrome is crucial for genetic counseling and management.
- Understanding the inheritance pattern aids in predicting recurrence risk.
- Further research into the molecular basis of OFCD syndrome may reveal therapeutic targets.