Oliver-McFarlane syndrome

Oliver-McFarlane Syndrome: A Rare Genetic Disorder

Oliver-McFarlane syndrome, also known as Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, is a rare genetic disorder characterized by several distinct features. The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.

Key Features:

• Trichomegaly: Long eyelashes and eyebrows are a hallmark of Oliver-McFarlane syndrome.
• Severe Chorioretinal Atrophy: This condition involves degeneration of the retina, leading to vision problems.
• Multiple Pituitary Hormone Deficiencies: The pituitary gland, which regulates various bodily functions, is affected in individuals with this syndrome. Growth hormone, gonadotropins, and thyroid-stimulating hormone (TSH) deficiencies are common.
• Short Stature and Intellectual Disability: Individuals with Oliver-McFarlane syndrome often experience short stature and intellectual disability if left untreated.

Other Related Conditions:

Oliver-McFarlane syndrome is part of a group of PNPLA6-related disorders, which also includes Boucher-Neuhäuser syndrome, Gordon Holmes syndrome, and others. These conditions share some similar features but have distinct characteristics.

References:

• [1] Oliver and McFarlane's initial report in 1965 described the association of long eyelashes, pigmentary degeneration of the retina, and mental and growth retardation in an isolated case.
• [2-6] Subsequent reports described six additional cases, highlighting the rarity and distinct features of this syndrome.
• [7-10] Recent studies have further characterized Oliver-McFarlane syndrome, emphasizing its genetic basis and overlap with other related conditions.

Note: The information provided is based on the search results and context provided.

Oliver-McFarlane Syndrome: A Rare Genetic Disorder

Oliver-McFarlane syndrome, also known as Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, is a rare genetic disorder characterized by a combination of severe symptoms. The following are the signs and symptoms associated with this condition:

• Hair Abnormalities: One of the distinctive features of Oliver-McFarlane syndrome is trichomegaly, which refers to abnormally long hair [1]. In addition, individuals with this condition may also experience sparse or thinning hair [8][9].
• Severe Chorioretinal Atrophy: This condition is associated with severe chorioretinal degeneration, which can lead to vision problems and night blindness [2][4][6].
• Hypopituitarism: Individuals with Oliver-McFarlane syndrome often experience growth hormone deficiencies, leading to short stature [1][3][7].
• Intellectual Disability: This condition is also associated with intellectual disability or psychomotor development retardation [4][5].

These symptoms can significantly impact daily life and may require ongoing medical attention. It's essential for individuals with Oliver-McFarlane syndrome to receive proper care and support to manage their condition effectively.

References:

[1] Context 1: Disease definition. [2] Context 2: by C Haritoglou · 2003 · Cited by 23 [3] Context 3: Oliver-McFarlane syndrome (OMCS) is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy, and multiple pituitary hormone ... [4] Context 4: by F Liu · 2020 · Cited by 11 — This syndrome is characterized by retinitis pigmentosa, psychomotor development retardation, trichomegaly, and multiple pituitary hormone ... [5] Context 6: Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has ... [7] Context 3: Oliver-McFarlane syndrome (OMCS) is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy, and multiple pituitary hormone ...

Diagnostic Tests for Oliver-McFarlane Syndrome

Oliver-McFarlane syndrome (OMS) is a rare genetic disorder that requires comprehensive diagnostic testing to confirm the diagnosis. The following tests are typically involved in diagnosing OMS:

• Genetic Testing: Identifying mutations in the PNPLA6 gene through genetic testing can confirm a diagnosis of OMS [5]. This test involves analyzing DNA samples from blood or other tissues.
• Clinical Evaluation: A comprehensive clinical evaluation is necessary to assess the patient's symptoms, medical history, and physical examination findings. This includes evaluating hair abnormalities (trichomegaly), severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability [1][14].
• Endocrine Tests: Endocrine tests are completed in serum to assess pituitary hormone deficiencies, including growth hormone (GH), gonadotropins, and thyroid-stimulating hormone (TSH) [12].

Additional Diagnostic Tests

Other diagnostic tests may be performed to rule out other conditions or to further evaluate the patient's symptoms. These include:

• Neurological Examination: A neurological examination is conducted to assess cognitive function, coordination, and reflexes [3].
• Imaging Studies: Imaging studies such as MRI or CT scans may be ordered to evaluate the extent of chorioretinal degeneration and other potential complications.

Importance of Multidisciplinary Approach

A multidisciplinary approach involving a team of healthcare professionals is essential for diagnosing OMS. This includes geneticists, endocrinologists, ophthalmologists, neurologists, and other specialists who can provide comprehensive care to patients with this rare disorder [13].

References:

[1] Context 1 [5] Context 5 [12] Context 12 [14] Context 14

Available Treatment Options for Oliver-McFarlane Syndrome

Oliver-McFarlane syndrome, a rare genetic disorder, presents unique challenges in terms of treatment. While there is no specific pharmacotherapy available to address the neurological symptoms, various treatments have been reported to have beneficial effects on certain aspects of the condition.

• Growth Hormone Supplementation: Growth hormone therapy has been shown to result in a growth spurt and improved final adult height ( Zaun et al., 1984; Kondoh et al., 2003) [7][8].
• Testosterone Supplementation: Testosterone therapy has been reported to have beneficial effects on secondary sexual characteristics, although the boy in one case study did not develop these characteristics according to his age (C Haritoglou, 2003) [3].
• Intravitreal Injections: A single intravitreal bevacizumab injection and a single intravitreal ranibizumab injection have been used to treat choroidal neovascularization (CNV) secondary to Oliver-McFarlane syndrome in one case report ( Clarke M, Splitt M. 2003) [11].

Important Considerations

While these treatments may provide some benefits, it is essential to note that:

• No specific pharmacotherapy has been proposed for the neurological symptoms of Oliver-McFarlane syndrome.
• Regular endocrinological, ophthalmological, and neurological control exams are recommended ( Clarke M, Splitt M. 2003) [11].

References

[1] Zaun et al., 1984 [2] Kondoh et al., 2003 [3] C Haritoglou, 2003 [4] Clarke M, Splitt M. 2003

Differential Diagnosis of Oliver-McFarlane Syndrome

Oliver-McFarlane syndrome (OMS) is a rare genetic disorder characterized by trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. When diagnosing OMS, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Laurence-Moon Syndrome: This syndrome shares some overlapping features with OMS, including retinitis pigmentosa, short stature, trichomegaly, and hair anomalies. Genetic examination is crucial to provide an accurate diagnosis.
• Boucher-Neuhäuser Syndrome: Characterized by cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism, this syndrome may be considered in the differential diagnosis of OMS.
• Gordon Holmes Syndrome: This syndrome presents with cerebellar ataxia, hypogonadotropic hypogonadism, and brisk reflexes, which may overlap with some features of OMS.
• Normal Variant Hypertrichosis: Increased total body hair can be a feature of this condition, which should be considered in the differential diagnosis of OMS.

Genetic Examination

Genetic testing is essential to provide an accurate diagnosis of OMS. Identifying mutations in the PNPLA6 gene can help confirm the diagnosis and rule out other conditions that may present with similar symptoms.

References:

• [2] Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by ...
• [8] Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD ...
• [11] Background: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations.
• [12] Table 1 includes a broad differential diagnosis for madarosis, sorted by ophthalmologic, dermatologic, and systemic disease. System Category ... Oliver-McFarlane syndrome and Cornelia de Lange syndrome, count eyelash trichomegaly as a defining diagnostic criterion.

Note: The above information is based on the provided context and may not be an exhaustive list of differential diagnoses for Oliver-McFarlane syndrome.