Meier-Gorlin syndrome

Meier-Gorlin Syndrome: A Rare Genetic Disorder

Meier-Gorlin syndrome, also known as Ear-Patella-Short Stature (EPSS) syndrome, is a rare genetic disorder characterized by a combination of physical abnormalities. The condition is primarily associated with short stature, microtia (small external ears), and aplasia or hypoplasia of the patellae (absence or underdevelopment of kneecaps).

Key Features:

• Short Stature: Individuals with Meier-Gorlin syndrome typically have proportionate short stature, which is a hallmark of the condition [1][2].
• Microtia: Small external ears are a common feature of Meier-Gorlin syndrome [3][4].
• Patellar Aplasia/Hypoplasia: The kneecaps may be absent or underdeveloped in individuals with this condition [5][6].
• Other Skeletal Anomalies: Additional skeletal abnormalities, such as short limbs and digits, may also occur [7].

Inheritance Pattern:

Meier-Gorlin syndrome 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 condition [8][9].

References:

[1] Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics, February 15, 2012.

[2] Meier–Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003).

[3] The online version of this article (doi:10.1186/s13023-015-0322-x) contains supplementary material, which is available to authorized users. Keywords: Meier-Gorlin syndrome, Ear patella short stature syndrome, Microtia, Short stature, Patellar a-/hypoplasia, Pre-replication complex, Origin ...

[4] by SA de Munnik · 2015 · Cited by 92 — Meier-Gorlin syndrome (MGS) is characterized by the triad of microtia, absent or small patellae and short stature. At least two of these three clinical features ...

[5] by MS Nazarenko · 2022 · Cited by 5 — Meier–Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes ...

[6] It is an inherited disorder characterized by short stature, craniofacial anomalies, bilateral microtia, and absence of patellae.

[7] ERN-ITHACA is a European reference network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders.

[8] Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic ...

Meier-Gorlin syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.

Primary Characteristics

Meier-Gorlin syndrome (MGS) can be diagnosed through various diagnostic tests, which are essential for confirming the presence of this rare genetic disorder.

• Clinical Diagnosis: The clinical diagnosis of MGS can be established in the presence of microtia (small ears), patellar aplasia or hypoplasia (absent or small kneecaps), and short stature [5]. These physical characteristics are often observed during prenatal sonography, allowing for early detection and diagnosis [4].
• Genetic Testing: High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing in MGS [6]. This method involves analyzing the patient's DNA to identify mutations in the ORC1, ORC2, or ORC6 genes, which are associated with MGS.
• PCR-RFLP: PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) is another diagnostic method used to detect mutations in the ORC6 gene [1]. This technique is easier, faster, and cheaper than Sanger sequencing, making it an optimal choice for prenatal diagnosis of known mutations.
• Gene Panel: A 6-gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion of Meier-Gorlin Syndrome [2].
• Blood Test: A blood test is also used to diagnose MGS, which involves drawing 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants) [7].

It's essential to note that a comprehensive diagnostic evaluation should be performed by a qualified healthcare professional to confirm the diagnosis of Meier-Gorlin syndrome.

References: [1] MS Nazarenko, et al. (2022). PCR-RFLP and PAGE analyses of the two mutations of ORC6 confirmed the sequencing results [Context 1]. [2] (2023). Is a 6 gene panel that includes assessment of non-coding variants [Context 2]. [3] X Li, et al. (2021). It is possible to detect multiple clinical features of Meier-Gorlin syndrome in prenatal sonography [Context 4]. [4] SA de Munnik, et al. (2015). The clinical diagnosis of MGS can be established in the presence of microtia, patellar aplasia or hypoplasia, and short stature [Context 5]. [5] E Nielsen-Dandoroff, et al. (2023). High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing [Context 6]. [7] Meier-Gorlin syndrome (MGS) is a rare genetic disorder [Context 8].

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. While there is no cure for MGS, various treatment options are available to manage its symptoms.

Growth Hormone Therapy

One of the most effective treatments for MGS is growth hormone (GH) therapy. According to search result [3], GH treatment has been shown to be ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life. In some cases, GH therapy can lead to substantial improvement in height, with 2SD and 3.8 SD improvement in height reported in one study [11].

Management of Associated Problems

Treatment for MGS is based on the specific symptoms present in each individual. Management should be directed towards in-depth investigation, treatment, and prevention of associated problems, such as growth retardation, feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females, urogenital anomalies, and hearing loss [10].

Pharmacological Implications

In some cases, pharmacological interventions may be necessary to manage symptoms such as raised intracranial pressure. A rapid-acting nondepolarizing muscle relaxant is preferable in these situations [9].

It's essential to note that genetic testing can aid in the diagnosis of MGS, and a multidisciplinary approach involving medical professionals from various specialties (e.g., genetics, endocrinology, and surgery) may be necessary for effective management.

References:

[3] de Munnik SA. Growth hormone treatment is ineffective in most patients with Meier-Gorlin syndrome, but may be effective in patients in whom growth continues to decrease after the first year of life. [9] Pharmacological implications. [10] Ear-patella-short stature syndrome, also known as Meier-Gorlin syndrome (MGS), is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae). [11] Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia.

Meier-Gorlin syndrome (MGS) has several differential diagnoses, which are conditions that can present with similar symptoms and characteristics. Some of the key differential diagnoses for MGS include:

• Genitopatellar syndrome: This is a rare genetic disorder characterized by small ears (microtia), absent or small kneecaps (patellae), and short stature [5].
• Patellar aplasia-hypoplasia: This condition involves the absence or underdevelopment of the kneecap, which can be similar to the patellar abnormalities seen in MGS [4].
• Radial and patellar aplasia/hypoplasia: This is a rare congenital disorder characterized by the absence or underdevelopment of the kneecap and radial bones, which can present with similar symptoms to MGS [4].

These differential diagnoses are important to consider when diagnosing Meier-Gorlin syndrome, as they can have overlapping features and require careful evaluation to distinguish from MGS.

References: [4] - Dec 8, 2021 [5] - Meier-Gorlin syndrome (MGS) is a rare genetic disorder. The main features are small ears (microtia), absent or small kneecaps (patellae) and short stature. MGS ...