Overview of Patterson-Stevenson Syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the face bones and limb abnormalities.
Definition and Rarity
Patterson-Stevenson-Fontaine syndrome is an exceptionally rare genetic condition characterized by abnormalities in facial bone and tissue development‚ alongside limb malformations. The rarity of this syndrome is underscored by its unique combination of features‚ making it a distinctive and seldom observed disorder.
Clinical Manifestations
Physical features of Patterson-Stevenson syndrome may include a recessed jaw (retrognathism)‚ cleft palate‚ and anomalies of the external ears.
Physical Features
Patterson-Stevenson-Fontaine syndrome is characterized by abnormal development of facial bones and tissues‚ including a recessed jaw (retrognathism)‚ cleft palate‚ and anomalies of the external ears.
Limb Abnormalities
Limb abnormalities associated with Patterson-Stevenson syndrome can include the absence of toes‚ clefts in the feet‚ fusion of toes (syndactyly)‚ and other variations affecting the structure of the limbs.
Research and Studies
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Historical Studies by Patterson and Stevenson
The pioneering work of Patterson and Stevenson in 1964 focused on a father-son duo with distinct manifestations of the syndrome‚ shedding initial light on this rare genetic condition. Fontaine et al. further expanded the understanding of the syndrome in a different family. Their contributions have significantly advanced the knowledge base for Patterson-Stevenson syndrome.
Genetic Locus Mapping
Studies have pinpointed the genetic locus of Patterson-Stevenson syndrome to the 7q36.3 region‚ which harbors a long-range regulatory sequence of sonic hedgehog (SHH)‚ shedding light on the molecular basis of this rare genetic condition.
Diagnosis and Specialist Referrals
Diagnosis of Patterson-Stevenson syndrome involves a thorough clinical evaluation‚ detailed medical history‚ physical examination‚ and specialized genetic testing. Specialist referrals to medical geneticists‚ craniofacial specialists‚ orthopedic surgeons‚ and other relevant healthcare professionals are essential for accurate diagnosis and comprehensive management of individuals with this rare genetic condition.
Support Organizations
Support organizations for Patterson-Stevenson-Fontaine syndrome offer assistance‚ information‚ and community support to individuals and families impacted by this rare genetic condition.
Community Groups
Community groups dedicated to supporting individuals with Patterson-Stevenson syndrome offer a vital network for sharing experiences‚ providing emotional assistance‚ and exchanging information on managing the challenges associated with this rare genetic condition; These groups serve as a crucial source of solidarity and understanding for affected individuals and their families.
Specialist Information
Specialists knowledgeable about Patterson-Stevenson syndrome have conducted research‚ received grants‚ written articles‚ participated in clinical trials‚ and are well-versed in the management and treatment of this rare genetic condition.
Fontaine Syndrome vs. Patterson-Stevenson Syndrome
Fontaine Syndrome‚ also known as Hereditary Lymphedema Type III‚ is a rare genetic disorder affecting the lymphatic system‚ characterized by abnormal swelling of limbs due to lymph fluid accumulation. In contrast‚ Patterson-Stevenson Syndrome presents with abnormal development of facial bones and limb abnormalities‚ distinguishing it as a unique genetic condition.