Oliver–McFarlane syndrome

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Oliver–McFarlane syndrome
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

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

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

Diagnosis of Oliver–McFarlane Syndrome is based on clinical examination and confirmed by genetic testing showing a mutation in the PNPLA6 gene.

Treatment

Treatment for Oliver–McFarlane Syndrome is symptomatic and supportive. Hormone replacement therapy may be necessary for those with pituitary hormone deficiencies.

Prognosis

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

• Chorioretinal atrophy
• Trichomegaly
• Pituitary hormone deficiencies

References

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