Meier-Gorlin syndrome 5

Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth retardation occurs in utero, resulting in individuals being significantly shorter than average.

This condition is often associated with other physical abnormalities, such as small ears (microtia) and absent or small kneecaps (patellae). The exact cause of Meier-Gorlin syndrome is not fully understood, but it is believed to be a genetic disorder that affects the growth and development of an individual.

Individuals with Meier-Gorlin syndrome may also experience other health issues, such as delayed puberty and infertility. However, the severity and impact of these symptoms can vary widely from person to person.

It's worth noting that Meier-Gorlin syndrome is a rare condition, and there is limited information available on its diagnosis and treatment. However, early recognition and management by a healthcare professional can help improve outcomes for individuals affected by this condition.

References:

• [5] - Meier-Gorlin syndrome is a condition primarily characterized by short stature.
• [1] - It is considered a form of primordial dwarfism because the growth retardation occurs in utero, resulting in individuals being significantly shorter than average.

Meier-Gorlin Syndrome Signs and Symptoms

Meier-Gorlin syndrome is a rare genetic disorder characterized by several distinct signs and symptoms. Here are some of the common features associated with this condition:

• Short stature: Most people with Meier-Gorlin syndrome have short stature, which can be proportionate or disproportionate.
• Small ears (microtia): One of the hallmark features of Meier-Gorlin syndrome is small ears and ear canals.
• Absent or small kneecaps (patellae): Many individuals with this condition have absent or very small kneecaps, which can lead to difficulties in walking or standing.
• Delayed bone age: Some people with Meier-Gorlin syndrome may experience delayed mineralization of bones, leading to a slower-than-expected growth rate.
• Skeletal abnormalities: In some cases, individuals with Meier-Gorlin syndrome may have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, or a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum).

These signs and symptoms can vary in severity and presentation among affected individuals. It's essential for healthcare professionals to diagnose Meier-Gorlin syndrome based on clinical signs and symptoms, with genetic testing serving as an aid in confirming the diagnosis.

References:

• [1] Small ears and ear canals are a hallmark feature of Meier-Gorlin syndrome (Source: #2)
• [3-4] Absent or small kneecaps, short stature, and delayed bone age are common features associated with this condition (Sources: #3, #4)
• [5] Skeletal abnormalities, such as narrow long bones and genu recurvatum, can also occur in individuals with Meier-Gorlin syndrome (Source: #5)

Meier-Gorlin Syndrome (MGS) can be diagnosed through various diagnostic tests, which are crucial for an accurate diagnosis.

• Genetic Testing: Genetic analysis is recommended to provide a molecular diagnosis of this disorder. This test helps identify the underlying genetic mutation that causes MGS [8].
• High-Throughput Sequencing: High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing, allowing for the detection of multiple clinical features of Meier-Gorlin syndrome in prenatal sonography [4].
• Chorionic Villus Sampling (CVS) or Amniocentesis: When the underlying molecular defect is known, prenatal diagnosis by chorionic villus sampling or amniocentesis is possible. This test can detect MGS in unborn babies [5].

It's essential to note that a 6-gene panel, including assessment of non-coding variants, is ideal for patients with a clinical suspicion of Meier-Gorlin Syndrome [2].

Growth Hormone Treatment Ineffective in Most Patients

According to search result [5], growth hormone treatment is ineffective in most patients with Meier-Gorlin syndrome (MGS). However, there are some exceptions where growth continues to decrease after the first year of life, and in such cases, growth hormone treatment may be effective.

Limited Response to Growth Hormone Treatment

Search result [15] mentions that two patients with MGS showed a positive response to growth hormone treatment. However, this is an exception rather than the rule, as most patients do not respond well to growth hormone therapy.

No Consistent Improvement in Height

Search result [13] reports on a patient with Meier-Gorlin syndrome who was prescribed growth hormone (somatropin) at 25 months old. Unfortunately, there were no reports of consistent improvement in height for this patient or others with similar ORC1 mutations.

Primordial Dwarfism and Growth Problems

Meier-Gorlin syndrome is a form of primordial dwarfism characterized by short stature that begins before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. This condition is primarily characterized by short stature, as mentioned in search result [4].

Rare Autosomal Recessive Disorder

Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Associated clinical features include feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females, and other growth-related issues.

References:

• [5] Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified.
• [15] a,b: Growth charts of two patients with Meier–Gorlin syndrome showing a positive response to growth hormone treatment. Height for age is compared to the normal range.
• [13] Chromosome karyotype of a patient with Meier-Gorlin syndrome, ORC1 mutation. Growth hormone (somatropin) 0.05 mg/kg/day was prescribed at 25 months old.

Meier-Gorlin Syndrome Differential Diagnoses

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, which can be a feature of MGS.
• Radial and patellar aplasia/hypoplasia: This rare genetic disorder involves the underdevelopment or absence of both the kneecap and radial bones in the forearm.

These conditions require careful consideration when diagnosing Meier-Gorlin syndrome. A thorough medical evaluation, including genetic testing, is necessary to confirm a diagnosis of MGS.

References:

• [4] (Dec 8, 2021) - Lists differential diagnoses for Meier-Gorlin syndrome.
• [5] (Meier-Gorlin syndrome (MGS) is a rare genetic disorder.) - Mentions the main features of Meier-Gorlin syndrome, which can be similar to other conditions.