The term 'Patterson's disease' can be a source of confusion because it does not refer to a single, universally recognized medical condition. Instead, the name 'Patterson' is associated with at least two different, extremely rare genetic syndromes, each with unique symptoms and underlying causes. This article will detail the symptoms of the primary conditions linked to this name, emphasizing the importance of accurate medical diagnosis.
Pseudoleprechaunism syndrome, Patterson type: A rare adrenal disorder
One of the most documented conditions referred to as Patterson syndrome is also known as Pseudoleprechaunism syndrome, Patterson type. First described by Patterson and Watkins in 1962, this is a rare genetic adrenal disorder affecting the endocrine and connective tissue systems. For detailed information on the symptoms, see {Link: rarediseases.org https://rarediseases.org/mondo-disease/pseudoleprechaunism-syndrome-patterson-type/}.
Patterson-Stevenson-Fontaine syndrome: An acrofacial dysostosis
Another very rare condition sometimes called Patterson syndrome is Patterson-Stevenson-Fontaine syndrome. This genetic disorder features abnormalities of the face (mandibulofacial dysostosis) and limbs. Symptoms are present from birth and vary in severity.
The symptoms of Patterson-Stevenson-Fontaine syndrome include:
- Mandibulofacial dysostosis: Affects facial bones and tissues, potentially including:
- Recessed jaw (retrognathism)
- Cleft palate
- External ear abnormalities
- Limb abnormalities: Primarily involves split-foot deformity (ectrodactyly), which may include:
- Missing toes
- Foot clefts
- Fusion of toes (syndactyly)
- Hearing loss: Some individuals may experience hearing impairment.
Clarifying other look-alike conditions
It is important to distinguish 'Patterson's disease' from Paterson-Kelly syndrome. Also known as Plummer-Vinson syndrome, this is not a genetic developmental disorder but is related to iron deficiency and esophageal issues.
Comparison of syndromes linked to 'Patterson'
This table compares key features of the syndromes associated with the 'Patterson' name:
| Feature | Pseudoleprechaunism syndrome, Patterson type | Patterson-Stevenson-Fontaine syndrome |
|---|---|---|
| Primary System Affected | Endocrine and connective tissue system | Facial bones/tissues and limbs |
| Symptom Onset | Present at birth and progress with age | Present from birth |
| Distinctive Features | Bronzed skin, loose skin on hands/feet, intellectual disability, endocrine issues | Mandibulofacial dysostosis (e.g., recessed jaw, cleft palate), split-foot deformity |
| Inheritance Pattern | Not explicitly stated in all sources, but is a rare genetic disorder | Autosomal dominant pattern |
| Prevalence | Extremely rare, with no reports since 1981 | Very rare, affecting fewer than 1,000 in the U.S. |
Diagnosis and management
Due to the extreme rarity of these syndromes, diagnosis is complex and requires a comprehensive medical evaluation. This includes assessing physical features and symptoms, and may involve genetic testing and radiographic studies to confirm skeletal abnormalities. A multidisciplinary medical team may be needed for care.
Steps for diagnosis may include:
- Detailed medical history: Review of symptoms and family history.
- Physical examination: Identifying congenital features and developmental issues.
- Radiographic imaging: Assessing skeletal dysplasia and bone deformities.
- Genetic testing: Identifying potential mutations, though the gene for Patterson-Stevenson-Fontaine syndrome is unknown.
- Endocrine and metabolic testing: For Pseudoleprechaunism syndrome, tests to evaluate adrenal function and blood sugar.
Management is primarily symptomatic, addressing specific health issues. This may include surgical interventions, physical therapy, occupational therapy, and medical management for endocrine or developmental issues.
Conclusion
Understanding what is Patterson's disease symptoms means recognizing that the term covers multiple distinct rare genetic conditions. Pseudoleprechaunism syndrome, Patterson type, is a rare adrenal and connective tissue disorder with features like bronzed skin and intellectual disability. Patterson-Stevenson-Fontaine syndrome is an acrofacial dysostosis with specific facial and limb deformities. Accurate diagnosis and symptom-specific management require proper medical evaluation. Consult a healthcare professional with concerns about these or other rare genetic disorders. The National Institutes of Health offers resources on rare diseases.
Visit the NIH's Genetic and Rare Diseases Information Center
