Meier-Gorlin syndrome 7

Meier-Gorlin syndrome 7 (MGS7) is a rare autosomal recessive condition characterized by a specific set of physical features and growth problems.

Physical Features:

• Small ears (microtia)
• Absent or small kneecaps (patellae)
• Short stature
• Distinctive facial features, including:
  • Microtia
  • A prominent nose with a convex nasal profile
  • A small mouth with full lips
  • Retro-/micrognathia

Growth Problems:

• Intrauterine growth retardation (growth problems begin before birth)
• Slow growth rate after birth, leading to short stature

Meier-Gorlin syndrome 7 is caused by a mutation in the CDC45 gene on chromosome 22q11. It is considered a form of primordial dwarfism, which means that the growth problems begin before birth and continue into childhood.

References:

• [1] Meier-Gorlin syndrome-7 (MGORS7) is caused by homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (Source: [1])
• Meier-Gorlin syndrome 7 is a rare autosomal recessive condition characterized by microtia, patellae abnormalities, and severe growth retardation. (Source: [8])
• Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. (Source: [7])

Signs and Symptoms of Meier-Gorlin Syndrome

Meier-Gorlin syndrome (MGS) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the common features include:

• Small ears: People with MGS often have very small ears, which can be a key indicator of the condition.
• Short stature: Individuals with MGS typically experience short stature, which can range from mild to severe.
• Absent or small kneecaps (patellae): The kneecaps may be absent or significantly smaller than usual in people with MGS.
• Hearing loss: Some individuals with MGS may experience hearing loss, which can vary in severity.
• Feeding problems: People with MGS may face difficulties with feeding, such as poor weight gain and delayed development.
• Respiratory tract abnormalities: The condition can also lead to respiratory issues, including narrow chest and short-rib dysplasia.
• Small chin and head size: Individuals with MGS often have a small chin and head size compared to others.

These signs and symptoms can vary in severity and may not be present in every individual with Meier-Gorlin syndrome. However, they are commonly associated with the condition.

References:

• [6] - Small ears and ear canals, short stature, and absent or very small kneecaps are characteristic features of MGS.
• [7] - Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size.

Meier-Gorlin syndrome (MGS) can be challenging to diagnose, but various diagnostic tests and approaches have been developed to aid in the identification of this rare genetic disorder.

• High-throughput sequencing: This is a standard first-tier approach for both diagnostics and research-based genetic testing. It has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome [7].
• Genetic analysis: Genetic analysis can provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis and risk assessment [13].
• PCR/RFLP: This is the most optimal method for prenatal diagnosis of known mutations, especially in cases where Sanger sequencing may not be feasible or cost-effective [4].

In addition to these diagnostic tests, clinicians may also consider the following:

• Physical examination: A detailed physical examination can help identify characteristic features of Meier-Gorlin syndrome, such as microtia, patellar applasia/hypoplasia, and proportionate short stature.
• Imaging studies: Imaging studies, such as ultrasound or X-rays, may be used to confirm the presence of skeletal anomalies or other features associated with Meier-Gorlin syndrome.

It's essential to note that a diagnosis of Meier-Gorlin syndrome should only be made by a qualified healthcare professional after a thorough evaluation and consideration of all relevant diagnostic tests and clinical findings.

Treatment Options for Meier-Gorlin Syndrome

Meier-Gorlin syndrome (MGS) is a rare genetic disorder characterized by short stature, among other symptoms. While there is no cure for MGS, various treatment options are available to manage its symptoms and improve quality of life.

• Growth Hormone Therapy: Growth hormone therapy has been shown to be effective in some patients with MGS, particularly those who continue to experience growth delay after the first year of life [1]. This treatment involves administering recombinant human growth hormone (rhGH) to stimulate growth and development.
• Estrogen Therapy: In females with MGS, estrogen therapy may be considered to treat mammary hypoplasia, a characteristic feature of the condition [3]. However, the effectiveness of this treatment is still debated and requires further investigation.

Other Treatment Considerations

While these treatments show promise, it's essential to note that each patient's response to treatment may vary. In some cases, patients with MGS may require more aggressive or specialized treatment approaches, such as those involving vismodegib or sonidegib [5].

It's also worth noting that the primary goal of treatment for MGS is to manage symptoms and improve quality of life, rather than to cure the condition entirely.

References:

[1] de Munnik SA. Growth hormone therapy in Meier-Gorlin syndrome: a case series. 2012; Cited by 120

[3] de Munnik SA. Treatment of mammary hypoplasia with exogenous estrogen in females with Meier-Gorlin syndrome. 2015; Cited by 93

[5] Wescott R. Treatment of Meier-Gorlin syndrome: a case series. 2023; Cited by 3

Differential Diagnoses for Meier-Gorlin Syndrome

Meier-Gorlin syndrome (MGS) can be challenging to diagnose due to its high clinical variability and genetic heterogeneity. However, several conditions share similar symptoms with MGS, making differential diagnosis essential.

• Genitopatellar syndrome: This rare genetic disorder also presents with short stature, small kneecaps (patellae), and other physical abnormalities.
• Patellar aplasia-hypoplasia: A condition characterized by the absence or underdevelopment of the kneecap (patella).
• Radial and patellar aplasia/hypoplasia: A rare genetic disorder that affects the development of the radius bone in the forearm and the kneecap (patella).

These conditions can be considered as part of the differential diagnosis for Meier-Gorlin syndrome, especially when patients present with similar symptoms. Accurate diagnosis requires a comprehensive evaluation of clinical features, family history, and genetic testing.

References:

• [4] - Differential Diagnoses
• [3] - The clinical diagnosis of MGS can be established in the presence of microtia, patellar aplasia or hypoplasia, and proportionate short stature.