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Meier-Gorlin syndrome 2
Description
Meier-Gorlin Syndrome Description
Meier-Gorlin syndrome (MGS) is a rare genetic disorder characterized by a combination of physical features and growth problems. The main features of MGS include:
- Small ears (microtia): One of the most distinctive features of MGS, microtia can be mild or severe.
- Absent or small kneecaps (patellae): This is another hallmark feature of MGS, with some individuals having one patella that is smaller than the other.
- Short stature: Individuals with MGS often have short stature, which begins before birth and continues after birth.
These three features are present in 97% of patients with MGS, making them a reliable indicator of the condition. However, it's worth noting that microtia can be mild, and not all individuals with MGS will exhibit all three features.
Additional Features
In addition to these primary features, some people with Meier-Gorlin syndrome may also experience:
- Difficulty feeding: Some individuals with MGS may have trouble feeding due to their small jaw size or other oral motor issues.
- Respiratory problems: Pulmonary emphysema and other breathing difficulties can occur in some cases of MGS.
- Skeletal abnormalities: Unusually narrow long bones, genu recurvatum (a deformity that allows the knee to bend backwards), and delayed bone age are all possible skeletal features associated with MGS.
Overall, Meier-Gorlin syndrome is a rare genetic disorder characterized by short stature, small ears, and absent or small kneecaps. While it can be challenging to diagnose, recognizing these primary features can help healthcare professionals identify the condition in affected individuals.
References
- [2] 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 ...
- [3] Meier-Gorlin syndrome Description Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine ...
- [11] 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).
Additional Characteristics
- Short stature
- Small ears (microtia)
- Absent or small kneecaps (patellae)
Signs and Symptoms
Main Features of Meier-Gorlin Syndrome
Meier-Gorlin syndrome (MGS) is primarily characterized by short stature, which is a key feature of this condition [2]. This is considered a form of primordial dwarfism.
Other Signs and Symptoms
In addition to short stature, people with MGS may also experience other signs and symptoms, including:
- Small ears (microtia)
- Absent or small kneecaps (patellae)
- Short limbs
- Short-rib dysplasia with narrow chest (persistent respiratory manifestations)
- Unusually shaped pelvis
- Extra fingers and/or toes
Additional Features
Some people with MGS may also experience additional features, such as:
- Hearing loss
- Feeding problems
- Respiratory tract abnormalities
- Small chin
- Small head size
These signs and symptoms can vary in severity and presentation from person to person [6].
References: [2] Feb 1, 2014 — Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism. [6] 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 ...
Additional Symptoms
- Hearing loss
- Feeding problems
- Short limbs
- Small head size
- Small chin
- Respiratory tract abnormalities
- Small ears (microtia)
- Absent or small kneecaps (patellae)
- Short-rib dysplasia with narrow chest (persistent respiratory manifestations)
- Unusually shaped pelvis
- or toes
- short stature
Diagnostic Tests
Meier-Gorlin syndrome (MGS) is a rare genetic disorder, and diagnostic tests are crucial for its identification. Based on the search results, here's an overview of the diagnostic tests associated with MGS:
- 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 [7]. However, this method may not always be accurate due to high clinical variability and considerable genetic heterogeneity without a clear genotype–phenotype correlation [3].
- Genetic analysis: Genetic testing is recommended for individuals with a personal and/or family history of MGS to ensure an accurate molecular diagnosis [5]. This test can identify the underlying genetic mutations responsible for the condition.
- 6-gene panel: A 6-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of Meier-Gorlin Syndrome [2]. This panel may help in identifying the specific genetic cause of MGS.
- Genomic-DNA testing: Genomic-DNA testing can be used to identify the genetic mutations associated with MGS. This test can provide a molecular diagnosis and is recommended for individuals with a confirmed or suspected case of MGS [10].
It's essential to note that genetic counselors can help determine the best course of action for diagnostic testing, especially if someone receives a diagnosis of Meier-Gorlin syndrome, other family members might want to consider genetic testing [9].
Additional Diagnostic Tests
- Clinical diagnosis
- Genetic analysis
- 6-gene panel
- Genomic-DNA testing
Treatment
Meier-Gorlin Syndrome (MGS) is a rare genetic disorder characterized by primordial dwarfism, bilateral microtia, and patellar aplasia/hypoplasia [10]. While there is no cure for MGS, various treatment options have been explored to manage its symptoms.
Growth Hormone Treatment
One of the most promising treatments for MGS is growth hormone therapy. Research has shown that growth hormone can be effective in promoting growth and development in patients with MGS [1], [6]. In fact, a study published by SA de Munnik in 2015 found that growth hormone treatment was effective in only four patients, one with ORC4 mutations, one with CDC6 mutations, and two without mutations [3].
However, it's essential to note that growth hormone treatment is not effective for most patients with MGS. A study by SA de Munnik in 2015 found that growth hormone treatment was ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life [1].
Other Treatment Options
While growth hormone therapy is a promising treatment option for MGS, other treatments have also been explored. For example, sustained hedgehog inhibitor treatment has been shown to suppress the progression of basal cell carcinomas associated with MGS [5]. However, more research is needed to fully understand the effectiveness and potential side effects of this treatment.
Management and Treatment Guidelines
In 2015, SA De Munnik provided an overview of the clinical features of Meier-Gorlin syndrome and guidelines for management and treatment of associated problems in this rare disorder [7]. These guidelines emphasize the importance of early diagnosis and intervention to manage symptoms and prevent complications.
Overall, while there is no cure for Meier-Gorlin Syndrome, various treatment options have been explored to manage its symptoms. Growth hormone therapy has shown promise in promoting growth and development in some patients, but more research is needed to fully understand its effectiveness and potential side effects.
References:
[1] by SA de Munnik · 2015 · Cited by 93 — Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of ...
[3] by SA de Munnik · 2015 · Cited by 93 — Growth hormone treatment was effective in only four patients, one with ORC4 mutations, one with CDC6 mutations and two without mutations [4, 23] ...
[5] by R Wescott · 2023 · Cited by 3 — Sustained hedgehog inhibitor treatment can suppress the progression of both new and existing basal cell carcinomas for an extended period.
[7] by SA De Munnik · 2015 · Cited by 93 — Here, we provide an overview of the clinical features of Meier-Gorlin syndrome and guidelines for management and treatment of associated problems in this rare ...
Recommended Medications
- Growth hormone therapy
- Sustained hedgehog inhibitor treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Meier-Gorlin Syndrome
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar aplasia/hypoplasia, and proportionate short stature. The differential diagnosis for MGS involves ruling out other conditions that may present with similar features.
Key Features to Consider
- Microtia (small ears)
- Patellar aplasia or hypoplasia (absent or small kneecaps)
- Proportionate short stature
Other Conditions to Consider in the Differential Diagnosis
- Primordial dwarfism syndromes, such as Seckel syndrome and Majewski syndrome
- Skeletal dysplasias, such as achondroplasia and thanatophoric dysplasia
- Congenital anomalies of the kneecap (patella)
Genetic Considerations
- Mutations in the ORC1, ORC4, ORC6, CDT1, or EXO1 genes have been associated with MGS
According to [11], Meier-Gorlin syndrome is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, EXO1). This information can be used to guide genetic testing and counseling for individuals suspected of having MGS.
Clinical Considerations
- A clinical diagnosis of MGS can be established in the presence of microtia, patellar aplasia or hypoplasia, and proportionate short stature [4].
- The association of microtia, patellar anomalies, and short stature as such has not been described in other syndromes [10].
By considering these key features, genetic factors, and clinical considerations, healthcare providers can accurately diagnose Meier-Gorlin syndrome and rule out other conditions that may present with similar symptoms.
Additional Differential Diagnoses
- Skeletal dysplasias
- Primordial dwarfism syndromes
- Congenital anomalies of the kneecap (patella)
- obsolete Majewski syndrome
- Seckel syndrome
- thanatophoric dysplasia
- achondroplasia
Additional Information
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