Oliver–McFarlane syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC
| Oliver–McFarlane syndrome | |
|---|---|
| File:Autosomal recessive - en.svg | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Alopecia, hypogonadism, retinitis pigmentosa, congenital hypothyroidism |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PNPLA6 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Bardet–Biedl syndrome, Alström syndrome |
| Prevention | N/A |
| Treatment | Symptomatic treatment, hormone replacement therapy |
| Medication | |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | |
Oliver–McFarlane Syndrome is a rare medical condition characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It was first described by Oliver and McFarlane in 1965.
Symptoms and Signs[edit]
The most common symptoms of Oliver–McFarlane Syndrome include trichomegaly, or abnormally long eyelashes, severe chorioretinal atrophy, and multiple pituitary hormone deficiencies. Other symptoms may include intellectual disability, dwarfism, and hypogonadism.
Causes[edit]
Oliver–McFarlane Syndrome is caused by mutations in the PNPLA6 gene. This gene provides instructions for making an enzyme that is found in many tissues throughout the body and plays a role in the metabolism of fats.
Diagnosis[edit]
Diagnosis of Oliver–McFarlane Syndrome is based on clinical examination and confirmed by genetic testing showing a mutation in the PNPLA6 gene.
Treatment[edit]
Treatment for Oliver–McFarlane Syndrome is symptomatic and supportive. Hormone replacement therapy may be necessary for those with pituitary hormone deficiencies.
Prognosis[edit]
The prognosis for individuals with Oliver–McFarlane Syndrome varies. Some individuals may have a normal lifespan with appropriate management of their symptoms, while others may experience significant health challenges.
See Also[edit]
References[edit]
 | This medical article is a stub. You can help WikiMD by expanding the page. |
