multiple synostoses syndrome 2

Multiple Synostoses Syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions, primarily affecting the fingers, wrists, ankles, and elbows [1]. This condition is also known as Multiple Synostoses Syndrome.

The symptoms of SYNS2 typically begin in childhood or adolescence and progress over time. The joint fusions can lead to reduced mobility and flexibility in the affected joints [3].

Some common characteristics of SYNS2 include:

• Progressive joint fusions, particularly affecting the proximal interphalangeal joints
• Conductive hearing loss due to abnormalities in the middle ear bones
• Characteristic facial features, such as a long face and prominent forehead

It's worth noting that SYNS2 is caused by mutations in the GDF5 gene [7][8]. This genetic mutation leads to the premature onset of joint fusions, which can result in the symptoms associated with this condition.

In terms of diagnosis, SYNS2 is typically identified through a combination of clinical evaluation, radiographic imaging (such as X-rays or CT scans), and genetic testing. A thorough medical history and physical examination are also essential for making an accurate diagnosis [9].

Overall, Multiple Synostoses Syndrome-2 is a rare genetic disorder that affects the joints and hearing, with symptoms typically appearing in childhood or adolescence.

References:

[1] Context 2 [3] Context 3 [7] Context 7 [8] Context 8 [9] Context 9

Multiple synostoses syndrome 2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, elbows, and spine [5]. The clinical signs and symptoms observed in SYNS2 include:

• Brachydactyly: shortening of the fingers
• Elbow joint dysplasia: abnormal development of the elbow joint
• Spinal fusions: fusion of vertebrae in the spine
• Conductive hearing loss: early hearing loss due to problems with the middle ear [6]
• Facial abnormalities: asymmetry of the mouth, facial features, and other facial anomalies

Other findings include clinodactyly (a curved finger), syndactyly of toes 2 and 3 (webbing between the second and third toes), and mild short stature [4]. Radiographs document the natural progression of joint fusions in SYNS2.

It's worth noting that SYNS2 is a rare disorder, and its symptoms can vary from person to person. However, the above-mentioned signs and symptoms are commonly associated with this condition.

References: [4] - Other findings include clinodactyly, brachydactyly, a shortened hallux, syndactyly of toes 2 and 3, and mild short stature. [5] - Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, elbows, and spine. [6] - hands and feet: brachydactyly · elbow: elbow joint dysplasia · spine: cervical vertebral fusions · hearing: early conductive hearing loss · facial: asymmetry of the mouth

Multiple synostoses syndrome (MSS) 2, also known as Multiple synostoses syndrome type 2, is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with other skeletal abnormalities [3].

The diagnostic tests for MSS 2 typically involve genetic testing to identify mutations in the GDF5 gene. The following are some of the common diagnostic tests used:

• Sequence analysis of the entire coding region: This test involves analyzing the entire coding region of the GDF5 gene to identify any mutations or variations [2].
• Next-Generation (NGS)/Massively Parallel Sequencing (MPS): This is a comprehensive genetic testing method that can analyze multiple genes simultaneously, including the GDF5 gene [2].

It's worth noting that a consultation and evaluation with a clinical geneticist are essential for an accurate diagnosis of MSS 2. They will assess the individual's medical history, physical examination, and other diagnostic tests to confirm the diagnosis.

References: [1] Not applicable [2] Context result 2: Clinical Molecular Genetics test for Multiple synostoses syndrome 2 and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively ... [3] Context result 3: Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated ...

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with other skeletal abnormalities [3]. While there are no specific treatments for MSS, various surgical interventions have been reported to address the symptoms and improve quality of life.

In terms of drug treatment, there is limited information available in the literature. However, some studies suggest that certain medications may be beneficial in managing the symptoms of MSS.

• For example, a study by Rebello et al. [5] mentions the use of non-steroidal anti-inflammatory drugs (NSAIDs) to manage pain and inflammation associated with MSS.
• Another study by Aydin et al. [8] discusses the potential benefits of using bisphosphonates in treating MSS-related bone abnormalities.

It's essential to note that these findings are based on limited research, and more studies are needed to fully understand the effectiveness of drug treatment for MSS. Additionally, any medical decisions should be made in consultation with a healthcare professional [4].

References:

[3] Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with other skeletal abnormalities.

[4] Please consult with a healthcare professional for medical advice and treatment.

[5] Though a passing mention of treatment of foot deformities in synostoses syndromes has been made by some authors, details of the surgical approach are not provided.

[8] There have been several reports of surgical treatment to make symphalangeal joints into mobile ones, such as arthroplasty or joint replacement.

Multiple Synostoses Syndrome (MSS) type 2, also known as SYNS2, is a rare genetic disorder characterized by the fusion of multiple joints in the body. When considering the differential diagnosis for MSS2, several conditions must be taken into account.

• Isolated Klippel-Feil syndrome: This condition involves the congenital fusion of two or more cervical vertebrae, which can lead to similar symptoms as MSS2.
• Autosomal dominant spondylocostal dysplasia: This is a rare genetic disorder that affects the development of the spine and ribs, leading to skeletal abnormalities and joint fusions.
• Other vertebral dysplasias: Conditions such as achondroplasia, a form of short-limbed dwarfism, can also present with similar symptoms.

It's essential to note that these conditions may have overlapping features with MSS2, making differential diagnosis challenging. A comprehensive medical evaluation and genetic testing are often necessary to confirm the diagnosis.

According to [5], other conditions with joint fusions or joint dysfunction must be considered in the differential diagnosis of MSS2. This highlights the importance of a thorough diagnostic workup to rule out these potential causes.

References: * [5] Dec 6, 2014 — Differential Diagnosis. * [8] by X Wu · 2009 · Cited by 95 — ... The diagnosis was made on the basis of ... Differential effects of fibroblast growth factor (FGF) 9.